Product Details

SNP ID

rs146649681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:39100412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAATGGCTCCACGCCCACGAGAG[G/T]CTACTTTGAAAACAAGGTGCCACAC

Phenotype

MIM: 610976

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

APOBEC3H PubMed Links

Gene Details

Gene

APOBEC3H

Gene Name

apolipoprotein B mRNA editing enzyme catalytic subunit 3H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166002.2	281	Missense Mutation	GGC,GTC	G45V	NP_001159474.2
NM_001166003.2	281	Missense Mutation	GGC,GTC	G45V	NP_001159475.2
NM_001166004.2	281	Missense Mutation	GGC,GTC	G45V	NP_001159476.2
NM_181773.4	281	Missense Mutation	GGC,GTC	G45V	NP_861438.3
XM_011529990.2	281	Missense Mutation	GGC,GTC	G45V	XP_011528292.1
XM_011529991.2	281	Missense Mutation	GGC,GTC	G45V	XP_011528293.1
XM_011529992.2	281	Missense Mutation	GGC,GTC	G45V	XP_011528294.1

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