Product Details

SNP ID

rs139294

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:39100407 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGCCGCAGAATGGCTCCACGCCCAC[C/G]AGAGGCTACTTTGAAAACAAGGTGC

Phenotype

MIM: 610976

Polymorphism

C/G, 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	276	Silent Mutation	ACC,ACG	T43T	NP_001159474.2
NM_001166003.2	276	Silent Mutation	ACC,ACG	T43T	NP_001159475.2
NM_001166004.2	276	Silent Mutation	ACC,ACG	T43T	NP_001159476.2
NM_181773.4	276	Silent Mutation	ACC,ACG	T43T	NP_861438.3
XM_011529990.2	276	Silent Mutation	ACC,ACG	T43T	XP_011528292.1
XM_011529991.2	276	Silent Mutation	ACC,ACG	T43T	XP_011528293.1
XM_011529992.2	276	Silent Mutation	ACC,ACG	T43T	XP_011528294.1

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