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GTGTCTGCTTCTCACCTGATGAGAT[C/T]AGGGTAAAACTGCTTGTCCCAGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 604188 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SELENBP1 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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SELENBP1 - selenium binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258288.1 | 1548 | Missense Mutation | AAT,GAT | N,D 354 | NP_001245217.1 | |
NM_001258289.1 | 1548 | Missense Mutation | AAT,GAT | N,D 458 | NP_001245218.1 | |
NM_003944.3 | 1548 | Missense Mutation | AAT,GAT | N,D 416 | NP_003935.2 | |
XM_017002757.1 | 1548 | Intron | XP_016858246.1 |