Product Details

SNP ID

rs149992908

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:186666198 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAATTGCTGCGGATTGCTGATG[C/T]CCACTTGGACAGAGTGGTGAGGAAT

Phenotype

MIM: 142640

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HRG PubMed Links

Gene Details

Gene

HRG

Gene Name

histidine rich glycoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000412.4	247	Missense Mutation	GCC,GTC	A56V	NP_000403.1
XM_005247415.3	247	Missense Mutation	GCC,GTC	A56V	XP_005247472.1

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