Product Details

SNP ID

rs201225013

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54769872 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCATGTCGCTCTTGGTCGTCAGC[A/G]TGGCGTGTGTTGGTGAGTCCTGGAA

Phenotype

MIM: 604936

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIR2DL1 PubMed Links

Gene Details

Gene

KIR2DL1

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014218.2	665	Missense Mutation	ATG,GTG	M8V	NP_055033.2
XM_011526939.2	665	Intron			XP_011525241.1
XM_017026782.1	665	Intron			XP_016882271.1
XM_017026783.1	665	Missense Mutation	ATG,GTG	M8V	XP_016882272.1

Gene

LOC101928804

Gene Name

uncharacterized LOC101928804

There are no transcripts associated with this gene.

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