Product Details

SNP ID

rs2253849

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:10451071 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCCTGTTCAGTTGCTAAAATGGAG[C/T]TTTTATTGCCTTTAGGTTTTCGTTG

Phenotype

MIM: 161555

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLRC1 PubMed Links

Gene Details

Gene

KLRC1

Gene Name

killer cell lectin like receptor C1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304448.1	543	Missense Mutation	AAC,AGC	N29S	NP_001291377.1
NM_002259.4	543	Missense Mutation	AAC,AGC	N29S	NP_002250.1
NM_007328.3	543	Missense Mutation	AAC,AGC	N29S	NP_015567.1
NM_213657.2	543	Missense Mutation	AAC,AGC	N29S	NP_998822.1
NM_213658.2	543	Missense Mutation	AAC,AGC	N29S	NP_998823.1

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