Product Details

SNP ID

rs200909165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:28113094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGGATGACGAAGTCTCGGCCCC[A/G]GAAGTCGGCGATGGTCCTGGGCAGC

Phenotype

MIM: 605837

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HERC2 PubMed Links

Gene Details

Gene

HERC2

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004667.5	7647	Missense Mutation	CGG,TGG	R4737W	NP_004658.3
XM_005268276.4	7647	Missense Mutation	CGG,TGG	R4699W	XP_005268333.1
XM_006720726.3	7647	Missense Mutation	CGG,TGG	R4732W	XP_006720789.1
XM_006720727.3	7647	Missense Mutation	CGG,TGG	R4651W	XP_006720790.1
XM_011522131.2	7647	Missense Mutation	CGG,TGG	R4576W	XP_011520433.1
XM_011522133.2	7647	Missense Mutation	CGG,TGG	R3652W	XP_011520435.1
XM_017022695.1	7647	Missense Mutation	CGG,TGG	R4699W	XP_016878184.1
XM_017022696.1	7647	Missense Mutation	CGG,TGG	R4699W	XP_016878185.1
XM_017022697.1	7647	Missense Mutation	CGG,TGG	R2459W	XP_016878186.1
XM_017022698.1	7647	Missense Mutation	CGG,TGG	R2459W	XP_016878187.1

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