Product Details

SNP ID

rs200967787

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:238325920 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAATCGTGGCGGGGCATGAGCCT[A/G]AAAGAACAAACGAGCTGCTCCAGAT

Phenotype

MIM: 607380

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TRAF3IP1 PubMed Links

Gene Details

Gene

TRAF3IP1

Gene Name

TRAF3 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001139490.1	478	Missense Mutation	AAA,GAA	K102E	NP_001132962.1
NM_015650.3	478	Missense Mutation	AAA,GAA	K102E	NP_056465.2
XM_006712414.2	478	Missense Mutation	AAA,GAA	K102E	XP_006712477.1
XM_011510944.2	478	Missense Mutation	AAA,GAA	K102E	XP_011509246.1
XM_011510945.2	478	Missense Mutation	AAA,GAA	K102E	XP_011509247.1
XM_011510946.2	478	Missense Mutation	AAA,GAA	K102E	XP_011509248.1
XM_011510947.2	478	Missense Mutation	AAA,GAA	K58E	XP_011509249.1
XM_011510948.2	478	Missense Mutation	AAA,GAA	K102E	XP_011509250.1
XM_011510950.2	478	Intron			XP_011509252.1
XM_017003789.1	478	Missense Mutation	AAA,GAA	K102E	XP_016859278.1

View Full Product Details