Product Details

SNP ID

rs142485597

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:108974752 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACAGCTACAGATGCCACTGCAC[C/T]GCCTGTAGTGGTAGGAATGAAAGTT

Phenotype

MIM: 615734

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

WDR47 PubMed Links

Gene Details

Gene

WDR47

Gene Name

WD repeat domain 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142550.1	2775	Missense Mutation	AGT,GGT	S809G	NP_001136022.1
NM_001142551.1	2775	Missense Mutation	AGT,GGT	S801G	NP_001136023.1
NM_014969.5	2775	Missense Mutation	AGT,GGT	S802G	NP_055784.3
XM_006710460.3	2775	Missense Mutation	AGT,GGT	S804G	XP_006710523.1
XM_011541027.2	2775	Missense Mutation	AGT,GGT	S810G	XP_011539329.1
XM_011541028.2	2775	Missense Mutation	AGT,GGT	S803G	XP_011539330.1
XM_011541029.1	2775	Missense Mutation	AGT,GGT	S811G	XP_011539331.1
XM_011541030.1	2775	Missense Mutation	AGT,GGT	S804G	XP_011539332.1
XM_011541031.1	2775	Missense Mutation	AGT,GGT	S711G	XP_011539333.1
XM_017000696.1	2775	Missense Mutation	AGT,GGT	S808G	XP_016856185.1
XM_017000697.1	2775	Missense Mutation	AGT,GGT	S801G	XP_016856186.1

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