Product Details

SNP ID

rs1130473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54830118 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGGACTCTGATGAACAAGACC[A/C]TGAGGAGGTGACATACGCACAGTTG

Phenotype

MIM: 604955 MIM: 604946

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KIR2DS4 PubMed Links

Gene Details

Gene

KIR2DS4

Gene Name

killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4

There are no transcripts associated with this gene.

Gene

KIR3DL1

Gene Name

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322168.1	1241	Missense Mutation	CAT,CCT	H393P	NP_001309097.1
NM_013289.2	1241	Missense Mutation	CAT,CCT	H393P	NP_037421.2

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