Product Details

SNP ID

rs146887700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:67923092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGGACTGGATGACTAGTTTCA[C/G]ACTCTTCATACCAAGAATAGGAATG

Phenotype

MIM: 609248 MIM: 604479

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HERC4 PubMed Links

Gene Details

Gene

HERC4

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278185.1	3374	Missense Mutation	CTG,GTG	L927V	NP_001265114.1
NM_001278186.1	3374	Missense Mutation	CTG,GTG	L742V	NP_001265115.1
NM_001278187.1	3374	Intron			NP_001265116.1
NM_015601.3	3374	Missense Mutation	CTG,GTG	L997V	NP_056416.2
NM_022079.2	3374	Missense Mutation	CTG,GTG	L1005V	NP_071362.1
XM_011539592.2	3374	Missense Mutation	CTG,GTG	L1029V	XP_011537894.1
XM_011539593.2	3374	Missense Mutation	CTG,GTG	L1021V	XP_011537895.1
XM_011539594.2	3374	Missense Mutation	CTG,GTG	L959V	XP_011537896.1
XM_011539595.2	3374	Missense Mutation	CTG,GTG	L959V	XP_011537897.1
XM_011539596.2	3374	Missense Mutation	CTG,GTG	L935V	XP_011537898.1
XM_011539597.2	3374	Missense Mutation	CTG,GTG	L908V	XP_011537899.1
XM_017016041.1	3374	Missense Mutation	CTG,GTG	L884V	XP_016871530.1

Gene

SIRT1

Gene Name

sirtuin 1

There are no transcripts associated with this gene.

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