Product Details

SNP ID

rs148593044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:186666103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTGTGCCGTGAGTCCCACTGACTG[A/C]AGTGCTGTTGAGCCGGAGGCTGAGA

Phenotype

MIM: 142640

Polymorphism

A/C, Transversion 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	152	Nonsense Mutation	TGA,TGC	*24C	NP_000403.1
XM_005247415.3	152	Nonsense Mutation	TGA,TGC	*24C	XP_005247472.1

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