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TCAGTTTAGAGCGTAGAGTTTCTTT[G/T]TCTGTATATTTTGGAAGATCCAGAA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 3469 | Missense Mutation | GAA,GAC | E,D 958 | NP_001265114.1 | |
NM_001278186.1 | 3469 | Missense Mutation | GAA,GAC | E,D 773 | NP_001265115.1 | |
NM_001278187.1 | 3469 | Intron | NP_001265116.1 | |||
NM_015601.3 | 3469 | Missense Mutation | GAA,GAC | E,D 1028 | NP_056416.2 | |
NM_022079.2 | 3469 | Missense Mutation | GAA,GAC | E,D 1036 | NP_071362.1 | |
XM_011539592.2 | 3469 | Missense Mutation | GAA,GAC | E,D 1060 | XP_011537894.1 | |
XM_011539593.2 | 3469 | Missense Mutation | GAA,GAC | E,D 1052 | XP_011537895.1 | |
XM_011539594.2 | 3469 | Missense Mutation | GAA,GAC | E,D 990 | XP_011537896.1 | |
XM_011539595.2 | 3469 | Missense Mutation | GAA,GAC | E,D 990 | XP_011537897.1 | |
XM_011539596.2 | 3469 | Missense Mutation | GAA,GAC | E,D 966 | XP_011537898.1 | |
XM_011539597.2 | 3469 | Missense Mutation | GAA,GAC | E,D 939 | XP_011537899.1 | |
XM_017016041.1 | 3469 | Missense Mutation | GAA,GAC | E,D 915 | XP_016871530.1 |
SIRT1 - sirtuin 1 | ||||||
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There are no transcripts associated with this gene. |