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GCTCTGTGTCGGGGGCATGACCCCA[C/T]TGAGGTAAGACGGAAGGCTTTTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 608069 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERRFI1 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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ERRFI1 - ERBB receptor feedback inhibitor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018948.3 | 1291 | Missense Mutation | AAT,AGT | N,S 343 | NP_061821.1 | |
XM_005263477.2 | 1291 | Missense Mutation | AAT,AGT | N,S 292 | XP_005263534.1 | |
XM_006710697.2 | 1291 | Missense Mutation | AAT,AGT | N,S 343 | XP_006710760.1 | |
XM_011541596.2 | 1291 | Missense Mutation | AAT,AGT | N,S 268 | XP_011539898.1 |