Product Details

SNP ID

rs150070707

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82444495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCGTGAGGGGGTGGGAGAAGCCC[A/G]TCGCAAGCCGGAGCACCACCATGTA

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	560	Missense Mutation	ACG,ATG	T132M	NP_001028218.1
NM_001100407.2	560	Missense Mutation	ACG,ATG	T132M	NP_001093877.1
NM_001100408.2	560	Missense Mutation	ACG,ATG	T118M	NP_001093878.1
NM_001193653.1	560	Missense Mutation	ACG,ATG	T132M	NP_001180582.1
NM_001193654.1	560	Missense Mutation	ACG,ATG	T132M	NP_001180583.1
NM_001193655.1	560	Missense Mutation	ACG,ATG	T132M	NP_001180584.1
NM_001193657.1	560	Missense Mutation	ACG,ATG	T132M	NP_001180586.1
XM_006722293.2	560	Missense Mutation	ACG,ATG	T118M	XP_006722356.1
XM_011523606.2	560	Missense Mutation	ACG,ATG	T165M	XP_011521908.1
XM_017025072.1	560	Missense Mutation	ACG,ATG	T165M	XP_016880561.1
XM_017025073.1	560	Missense Mutation	ACG,ATG	T151M	XP_016880562.1
XM_017025074.1	560	Missense Mutation	ACG,ATG	T132M	XP_016880563.1
XM_017025075.1	560	Missense Mutation	ACG,ATG	T132M	XP_016880564.1
XM_017025076.1	560	Missense Mutation	ACG,ATG	T132M	XP_016880565.1
XM_017025077.1	560	Missense Mutation	ACG,ATG	T132M	XP_016880566.1
XM_017025078.1	560	Missense Mutation	ACG,ATG	T118M	XP_016880567.1

Gene

HEXDC

Gene Name

hexosaminidase D

There are no transcripts associated with this gene.

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