Product Details

SNP ID
rs141848154
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109088297 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGGAAGACTGTGGTACCAGTGC[A/G]TGTTGGTCGGGTGGTTCATCATTAG
Phenotype
MIM: 610602 MIM: 191525 MIM: 612492
Polymorphism
A/G, 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 1088 Missense Mutation ACG,ATG T232M NP_001001655.1
NM_001145374.1 1088 Missense Mutation ACG,ATG T232M NP_001138846.1
NM_001145375.1 1088 Missense Mutation ACG,ATG T232M NP_001138847.1
NM_001205179.1 1088 UTR 3 NP_001192108.1
NM_001205180.1 1088 UTR 3 NP_001192109.1
XM_005253835.4 1088 Missense Mutation ACG,ATG T232M XP_005253892.1
XM_005253836.1 1088 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 1088 Intron NP_001288104.1
NM_032663.4 1088 Intron NP_116052.2
XM_005253962.3 1088 Intron XP_005254019.1
XM_005253965.4 1088 Intron XP_005254022.1
XM_006719653.3 1088 Intron XP_006719716.1
XM_011538894.2 1088 Intron XP_011537196.1
XM_017020048.1 1088 Intron XP_016875537.1
XM_017020049.1 1088 Intron XP_016875538.1
XM_017020050.1 1088 Intron XP_016875539.1
XM_017020051.1 1088 Intron XP_016875540.1
XM_017020052.1 1088 Intron XP_016875541.1
XM_017020053.1 1088 Intron XP_016875542.1
XM_017020054.1 1088 Intron XP_016875543.1

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