Product Details

SNP ID

rs140551705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:103378476 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGACATCTTTGATGGGATGCCG[C/T]GTAGTAAGCAACAGATAGATGCGAT

Phenotype

MIM: 601787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TAF5 PubMed Links

Gene Details

Gene

TAF5

Gene Name

TATA-box binding protein associated factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006951.4	1076	Missense Mutation	CGT,TGT	R347C	NP_008882.2
NM_139052.2	1076	Missense Mutation	CGT,TGT	R347C	NP_620640.1

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