Product Details

SNP ID

rs146911342

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31270002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTACACATCATAGCGGTGACCA[C/T]AGCTCCAAGGACAGCTAGGACAACC

Phenotype

MIM: 142840

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HLA-C PubMed Links

Gene Details

Gene

HLA-C

Gene Name

major histocompatibility complex, class I, C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243042.1	1044	Missense Mutation	ATG,GTG	M327V	NP_001229971.1
NM_002117.5	1044	Missense Mutation	ATG,GTG	M327V	NP_002108.4

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