Product Details

SNP ID

rs145403707

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82444498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGAGGGGGTGGGAGAAGCCCGTC[A/G]CAAGCCGGAGCACCACCATGTAGCC

Phenotype

MIM: 616864

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C17orf62 PubMed Links

Gene Details

Gene

C17orf62

Gene Name

chromosome 17 open reading frame 62

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033046.3	557	Missense Mutation	GCG,GTG	A131V	NP_001028218.1
NM_001100407.2	557	Missense Mutation	GCG,GTG	A131V	NP_001093877.1
NM_001100408.2	557	Missense Mutation	GCG,GTG	A117V	NP_001093878.1
NM_001193653.1	557	Missense Mutation	GCG,GTG	A131V	NP_001180582.1
NM_001193654.1	557	Missense Mutation	GCG,GTG	A131V	NP_001180583.1
NM_001193655.1	557	Missense Mutation	GCG,GTG	A131V	NP_001180584.1
NM_001193657.1	557	Missense Mutation	GCG,GTG	A131V	NP_001180586.1
XM_006722293.2	557	Missense Mutation	GCG,GTG	A117V	XP_006722356.1
XM_011523606.2	557	Missense Mutation	GCG,GTG	A164V	XP_011521908.1
XM_017025072.1	557	Missense Mutation	GCG,GTG	A164V	XP_016880561.1
XM_017025073.1	557	Missense Mutation	GCG,GTG	A150V	XP_016880562.1
XM_017025074.1	557	Missense Mutation	GCG,GTG	A131V	XP_016880563.1
XM_017025075.1	557	Missense Mutation	GCG,GTG	A131V	XP_016880564.1
XM_017025076.1	557	Missense Mutation	GCG,GTG	A131V	XP_016880565.1
XM_017025077.1	557	Missense Mutation	GCG,GTG	A131V	XP_016880566.1
XM_017025078.1	557	Missense Mutation	GCG,GTG	A117V	XP_016880567.1

Gene

HEXDC

Gene Name

hexosaminidase D

There are no transcripts associated with this gene.

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