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TGCAGGCTGGCCAGTGTCCTGCCGA[A/G]CTGGGGGTCCTGACGGTAGCGGTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608005 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SIL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SIL1 - SIL1 nucleotide exchange factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001037633.1 | 1495 | Missense Mutation | CTC,TTC | L,F 418 | NP_001032722.1 | |
NM_022464.4 | 1495 | Missense Mutation | CTC,TTC | L,F 418 | NP_071909.1 | |
XM_011543570.2 | 1495 | Missense Mutation | CTC,TTC | L,F 428 | XP_011541872.1 |