Product Details

SNP ID

rs142344117

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:109066211 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATAAGGATTCTGGTCATCCCCA[A/T]AGCCATACATCATACATCGCACTGT

Phenotype

MIM: 600774

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

TAF13 PubMed Links

Gene Details

Gene

TAF13

Gene Name

TATA-box binding protein associated factor 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005645.3	183	Missense Mutation	TAT,TTT	Y43F	NP_005636.1

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