Product Details

SNP ID
rs5757475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:39100389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGTGTTACCAGCTGACGCCGCA[G/T]AATGGCTCCACGCCCACGAGAGGCT
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_001166002.2 238 Missense Mutation CAG,CAT Q37H NP_001159474.2
NM_001166003.2 238 Missense Mutation CAG,CAT Q37H NP_001159475.2
NM_001166004.2 238 Missense Mutation CAG,CAT Q37H NP_001159476.2
NM_181773.4 238 Missense Mutation CAG,CAT Q37H NP_861438.3

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