Product Details

SNP ID: rs142477859
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:109088262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCAGATTCACCCGTGGAGCCAGAA[C/T]CTTCTTTCTCACGGGAAGACTGTGG
Phenotype: MIM: 610602 MIM: 191525 MIM: 612492
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ALKBH2 PubMed Links

Gene Details

Gene: ALKBH2
Gene Name: alkB homolog 2, alpha-ketoglutarate dependent dioxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001655.2	1123	Missense Mutation			NP_001001655.1
NM_001145374.1	1123	Missense Mutation			NP_001138846.1
NM_001145375.1	1123	Missense Mutation			NP_001138847.1
NM_001205179.1	1123	UTR 3			NP_001192108.1
NM_001205180.1	1123	UTR 3			NP_001192109.1
XM_005253835.4	1123	Missense Mutation			XP_005253892.1
XM_005253836.1	1123	UTR 3			XP_005253893.1

Gene: UNG
Gene Name: uracil DNA glycosylase

There are no transcripts associated with this gene.

Gene: USP30
Gene Name: ubiquitin specific peptidase 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301175.1	1123	Intron			NP_001288104.1
NM_032663.4	1123	Intron			NP_116052.2
XM_005253962.3	1123	Intron			XP_005254019.1
XM_005253965.4	1123	Intron			XP_005254022.1
XM_006719653.3	1123	Intron			XP_006719716.1
XM_011538894.2	1123	Intron			XP_011537196.1
XM_017020048.1	1123	Intron			XP_016875537.1
XM_017020049.1	1123	Intron			XP_016875538.1
XM_017020050.1	1123	Intron			XP_016875539.1
XM_017020051.1	1123	Intron			XP_016875540.1
XM_017020052.1	1123	Intron			XP_016875541.1
XM_017020053.1	1123	Intron			XP_016875542.1
XM_017020054.1	1123	Intron			XP_016875543.1

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