Product Details

SNP ID

rs114172135

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:112141017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGGGGAGGAAAAGAGAAATGAG[A/G]TTGCCATACCTCCTAATGCATATGA

Phenotype

MIM: 613197

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TRAFD1 PubMed Links

Gene Details

Gene

TRAFD1

Gene Name

TRAF-type zinc finger domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143906.1	522	Missense Mutation	ATT,GTT	I146V	NP_001137378.1
NM_006700.2	522	Missense Mutation	ATT,GTT	I146V	NP_006691.1

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