Selectin E (SELE)

SNP Number Exon Position In Exon Confirmation Call Quality Heterozygosity Class Sample Detected Location In gene Amino Acid 1 Amino Acid 2 Type of Amino Acid Change Codon Position Codon 1 Codon 2 GenBank Accession # Allele 1 Allele 1 Frequency Allele 2 Allele 2 Frequency Flanking Sequence
CHAK00431 1 143 Not Confirmed Likely Medium Both Promoter N/A N/A N/A 0 N/A N/A M61895 A 0.75 G 0.25 CATCTGTACAAGCTCTTATTGTATTGTAGCTAAAACCTGTCTTTTCTCTTTGACCTAAAT*ATGAAAGTCTTAAAATTTGTTTATTTATTTGATTAAACTCTGAAATAAAGATTATTGCAC
CHAK00432 1 209 Not Confirmed Likely Rare U.S. White Promoter N/A N/A N/A 0 N/A N/A M61895 T 0.95 G 0.05 AGTCTTAAAATTTGTTTATTTATTTGATTAAACTCTGAAATAAAGATTATTGCACTAGTG*CCTTTGCCCAAAATCTTAGGATGCTGCCTTAAACATCATGGTAGAATAATGTAACTAGCT
CHAK00433 10 107 Confirmed Likely Low U.S. White Coding Leu Phe Nonsynonymous 1 CTC TTC M61892 C 0.9 T 0.1 ATTCCCTTGGTAGCTGGACTTTCTGCTGCTGGACTCTCCCTCCTGACATTAGCACCATTT*TCCTCTGGCTTCGGAAATGCTTACGGAAAGGTGAGGAAGTTTATGAATGTACTTCAAAAA
CHAK00434 12 54 Confirmed Likely Low Both Coding Asp Asp Synonymous 3 GAT GAC M61893 T 0.95 C 0.05 ACAGTGCTTTACCTAGTGTTCTCATGTATTCCACAGCAGCTGCCAAAGCCTTGAATCAGA*GGAAGCTACCAAAAGCCTTCTTACATCCTTTAAGTTCAAAAGAATCAGGTAAGACTTGTA
CHAK00435 13 967 Not Confirmed Likely Rare Both 3' UTR N/A N/A N/A 0 N/A N/A M61894 T 0.95 C 0.05 TTACTACAGTTGTTTTTTGAAAACATGGTAGAATTGGAGAGTAAAAACTGAATGGAAGGT*TGTATATTGTCAGATATTTTTTCAGAAATATGTGGTTTCCACGATGAAAAACTTCCATGA
CHAK00436 13 1004 Not Confirmed Likely Rare U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M61894 T 0.95 G 0.05 AGAGTAAAAACTGAATGGAAGGTTTGTATATTGTCAGATATTTTTTCAGAAATATGTGGT*TCCACGATGAAAAACTTCCATGAGGCCAAACGTTTTGAACTAATAAAAGCATAAATGCAA
CHAK00437 13 1158 Not Confirmed Certain High Both 3' UTR N/A N/A N/A 0 N/A N/A M61894 G 0.5 A 0.5 TTGGAAAAGAATACAGAAAGATGGATGTGCTTTGCATTCCTACAAAGATGTTTGTCAGAT*TGATATGTAAACATAATTCTTGTATATTATGGAAGATTTTAAATTCACAATAGAAACTCA
CHAK00438 13 1549 Not Confirmed Certain High U.S. White 3' UTR N/A N/A N/A 0 N/A N/A M61894 G 0.35 A 0.65 TTAACTTAGCATGTGTTGAAAAAAAAAGTTTCAGAGAAGTTCTGGCTGAACACTGGCAAC*ACAAAGCCAACAGTCAAAACAGAGATGTGATAAGGATCAGAACAGCAGAGGTTCTTTTA
CHAK00439 2 382 Not Confirmed Likely Rare U.S. White Coding Cys Trp Nonsynonymous 3 TGC TGG M61887 C 0.95 G 0.05 CTGCGTGGAGATCTACATCAAGAGAGAAAAAGATGTGGGCATGTGGAATGATGAGAGGTG*AGCAAGAAGAAGCTTGCCCTATGCTACACAGGTAGGGAGTTTGCGGCACGAGTGGGAGGT
CHAK00440 3 53 Confirmed Likely Rare Both Coding Ser Arg Nonsynonymous 1 AGT CGT M61888 A 0.95 C 0.05 TAATAGTCCTCCTCATCATGCTTTGTATTTTCCGTAGCTGCCTGTACCAATACATCCTGC*GTGGCCACGGTGAATGTGTAGAGACCATCAATAATTACACTTGCAAGTGTGACCCTGGCT
CHAK00441 3 152 Not Confirmed Likely Rare Both Intron N/A N/A N/A 0 N/A N/A M61888 T 0.95 C 0.05 ACTTGCAAGTGTGACCCTGGCTTCAGTGGACTCAAGTGTGAGCAAAGTAAGTCTGGTTCT*GCCTCTTTCTTCACTTGAGATGGTAGCACCATCTCACGTCCTAGCTGGCATTA
CHAK00442 5 55 Not Confirmed Likely Rare Both Coding Asn Asn Synonymous 3 AAT AAC M61890 T 0.95 C 0.05 TCTGTAAAATTCATGGTGCTCTTTCAAATCCTCAGTGGTTGAGTGTGATGCTGTGACAAA*CCAGCCAATGGGTTCGTGGAATGTTTCCAAAACCCTGGAAGCTTCCCATGGAACACAACC
CHAK00443 5 197 Not Confirmed Likely Rare African Coding Glu Lys Nonsynonymous 1 GAG AAG M61890 G 0.95 A 0.05 GGATTTGAACTAATGGGAGCCCAGAGCCTTCAGTGTACCTCATCTGGGAATTGGGACAAC*AGAAGCCAACGTGTAAAGGTAGAGTTGTTCCACATGGAGACTTACTGTGAACATTCTTTC
CHAK00444 7 199 Not Confirmed Likely Low African Coding Asn Asn Synonymous 3 AAC AAT M61891 C 0.95 T 0.05 GGGTTTTGTGTTGAAGGGATCCAAAAGGCTCCAATGTGGCCCCACAGGGGAGTGGGACAA*GAGAAGCCCACATGTGAAGGTACAGTCTTTGTTTTTATTTTATTTTAAGATAAAAAGAAC
CHAK00445 7 200 Not Confirmed Likely Rare African Coding Glu Gln Nonsynonymous 1 GAG CAG M61891 G 0.95 C 0.05 GGTTTTGTGTTGAAGGGATCCAAAAGGCTCCAATGTGGCCCCACAGGGGAGTGGGACAAC*AGAAGCCCACATGTGAAGGTACAGTCTTTGTTTTTATTTTATTTTAAGATAAAAAGAACT
CHAK00446 8 22 Not Confirmed Likely Low Both Intron N/A N/A N/A 0 N/A N/A M61891 T 0.95 C 0.05 GGTTACCTTGGGAAACGTATTGCTGGAGATGCAAACAAACTTCTAAAGTGCTCTCTCGTG*GTTCCAGCTGTGAGATGCGATGCTGTCCACCAGCCCCCGAAGGGTTTGGTGAGGTGTGCT
CHAK00447 8 152 Not Confirmed Likely Rare Both Coding His Tyr Nonsynonymous 1 CAT TAT M61891 C 0.95 T 0.05 ATTGGAGAATTCACCTACAAGTCCTCTTGTGCCTTCAGCTGTGAGGAGGGATTTGAATTA*ATGGATCAACTCAACTTGAGTGCACATCTCAGGGACAATGGACAGAAGAGGTTCCTTCCT
CHAK00952 N/A 43 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Ala Ala Synonymous 3 GCT GCC N/A T N/A C N/A TTCGTCTCTTACTTCCTTAGCTCCCACTGAGTCCAACATTCCCTTGGTAGCTGGACTTTCTGC*GCTGGACTCTCCCTCCTGACATTAGCACCATTTCTCCTCTGGCTTCGGAAATGCTTACGGAAAGGT
CHAK00953 N/A 45 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Ser Ser Synonymous 3 TCT TCC N/A T N/A C N/A CTTTACCTAGTGTTCTCATGTATTCCACAGCAGCTGCCAAAGCCTTGAATCAGATGGAAGCTACCAAAAGCCTTC*TACATCCTTTAAGTTCAAAAGAATCAGGTAAGACTTGTAAATCACAAATGGTTATGAGAGAGGTATCTTCTCTACAT
CHAK00954 N/A 77 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Leu Phe Nonsynonymous N/A N/A N/A N/A C N/A T N/A TCTTACTTCCTTAGCTCCCACTGAGTCCAACATTCCCTTGGTAGCTGGACTTTCTGC*GCTGGACTCTCCCTCCTGACATTAGCACCATTTCTCCTCTGGCTTCGGAAATGC
CHAK00955 N/A 235/238 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Thr Thr Synonymous 3 ACA ACG N/A A N/A G N/A TGGATTGGAATCAGAAAAGTCAACAATGTGTGGGTCTGGGTAGGAACCCAGAAACCTCTGAC*GAAGAAGCCAAGAACTGGGCTCCAGGTGAACCCAACAATAGGCAAAAAGATGAGGAC
CHAK00956 N/A 235/238 Hum Genet 1996 Jan;97(1):15-20 N/A N/A Literature Search Coding Glu Glu Synonymous 3 GAA GAG N/A A N/A G N/A TGGATTGGAATCAGAAAAGTCAACAATGTGTGGGTCTGGGTAGGAACCCAGAAACCTCTGACAGA*GAAGCCAAGAACTGGGCTCCAGGTGAACCCAACAATAGGCAAAAAGATGAGGAC
Please e-mail any questions or suggestions to Michael A. Choma or Marc Halushka.