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ATCAATAGCTTGGATCAGTTTAGAG[C/T]GTAGAGTTTCTTTTTCTGTATATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609248 MIM: 604479 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HERC4 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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HERC4 - HECT and RLD domain containing E3 ubiquitin protein ligase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278185.1 | 3483 | Missense Mutation | CAC,CGC | H,R 963 | NP_001265114.1 | |
NM_001278186.1 | 3483 | Missense Mutation | CAC,CGC | H,R 778 | NP_001265115.1 | |
NM_001278187.1 | 3483 | Intron | NP_001265116.1 | |||
NM_015601.3 | 3483 | Missense Mutation | CAC,CGC | H,R 1033 | NP_056416.2 | |
NM_022079.2 | 3483 | Missense Mutation | CAC,CGC | H,R 1041 | NP_071362.1 | |
XM_011539592.2 | 3483 | Missense Mutation | CAC,CGC | H,R 1065 | XP_011537894.1 | |
XM_011539593.2 | 3483 | Missense Mutation | CAC,CGC | H,R 1057 | XP_011537895.1 | |
XM_011539594.2 | 3483 | Missense Mutation | CAC,CGC | H,R 995 | XP_011537896.1 | |
XM_011539595.2 | 3483 | Missense Mutation | CAC,CGC | H,R 995 | XP_011537897.1 | |
XM_011539596.2 | 3483 | Missense Mutation | CAC,CGC | H,R 971 | XP_011537898.1 | |
XM_011539597.2 | 3483 | Missense Mutation | CAC,CGC | H,R 944 | XP_011537899.1 | |
XM_017016041.1 | 3483 | Missense Mutation | CAC,CGC | H,R 920 | XP_016871530.1 |
SIRT1 - sirtuin 1 | ||||||
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There are no transcripts associated with this gene. |