Product Details

SNP ID

rs1995319

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:36290396 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGTATCTTGATGTGCTGAGTGATG[A/T]TACTGGCCCCCAAGTGTCTTGTTAT

Phenotype

MIM: 616979

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DTHD1 PubMed Links

Gene Details

Gene

DTHD1

Gene Name

death domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136536.4	1076	Missense Mutation	GAT,GTT	D14V	NP_001130008.2
NM_001170700.2	1076	Missense Mutation	GAT,GTT	D179V	NP_001164171.1
XM_006714014.3	1076	Missense Mutation	GAT,GTT	D304V	XP_006714077.1
XM_011513693.2	1076	Missense Mutation	GAT,GTT	D304V	XP_011511995.1
XM_011513694.2	1076	Missense Mutation	GAT,GTT	D304V	XP_011511996.1
XM_011513695.2	1076	Missense Mutation	GAT,GTT	D304V	XP_011511997.1
XM_011513696.2	1076	Missense Mutation	GAT,GTT	D14V	XP_011511998.1
XM_017008191.1	1076	Missense Mutation	GAT,GTT	D304V	XP_016863680.1
XM_017008192.1	1076	Missense Mutation	GAT,GTT	D304V	XP_016863681.1
XM_017008193.1	1076	Missense Mutation	GAT,GTT	D304V	XP_016863682.1

View Full Product Details