Product Details

SNP ID

rs2306758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82444070 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTGAGACAGCTCTGTGGGGCTCTC[G/A]AGGCAGTGCAGCTCCAGGAAGCTGG

Phenotype

MIM: 616864

Polymorphism

G/A, 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	663	Silent Mutation	CTC,CTT	L166L	NP_001028218.1
NM_001100407.2	663	Silent Mutation	CTC,CTT	L166L	NP_001093877.1
NM_001100408.2	663	Silent Mutation	CTC,CTT	L152L	NP_001093878.1
NM_001193653.1	663	Silent Mutation	CTC,CTT	L166L	NP_001180582.1
NM_001193654.1	663	Silent Mutation	CTC,CTT	L166L	NP_001180583.1
NM_001193655.1	663	Silent Mutation	CTC,CTT	L166L	NP_001180584.1
NM_001193657.1	663	Silent Mutation	CTC,CTT	L166L	NP_001180586.1
XM_006722293.2	663	Silent Mutation	CTC,CTT	L152L	XP_006722356.1
XM_011523606.2	663	Silent Mutation	CTC,CTT	L199L	XP_011521908.1
XM_017025072.1	663	Silent Mutation	CTC,CTT	L199L	XP_016880561.1
XM_017025073.1	663	Silent Mutation	CTC,CTT	L185L	XP_016880562.1
XM_017025074.1	663	Silent Mutation	CTC,CTT	L166L	XP_016880563.1
XM_017025075.1	663	Silent Mutation	CTC,CTT	L166L	XP_016880564.1
XM_017025076.1	663	Silent Mutation	CTC,CTT	L166L	XP_016880565.1
XM_017025077.1	663	Silent Mutation	CTC,CTT	L166L	XP_016880566.1
XM_017025078.1	663	Silent Mutation	CTC,CTT	L152L	XP_016880567.1

Gene

HEXDC

Gene Name

hexosaminidase D

There are no transcripts associated with this gene.

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