Product Details

SNP ID
rs193041881
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:107505101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGGCTATTTCTGTTTCCTCTAA[A/G]ATACTTGGACTTCTGCTTATTATAT
Phenotype
MIM: 613306
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALKBH8 PubMed Links

Gene Details

Gene
ALKBH8
Gene Name
alkB homolog 8, tRNA methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301010.1 1467 Missense Mutation CTT,TTT L521F NP_001287939.1
NM_138775.2 1467 Missense Mutation CTT,TTT L518F NP_620130.2
XM_005271728.2 1467 Missense Mutation CTT,TTT L381F XP_005271785.1
XM_005271729.3 1467 Missense Mutation CTT,TTT L381F XP_005271786.1
XM_017018553.1 1467 Missense Mutation CTT,TTT L471F XP_016874042.1
XM_017018554.1 1467 Missense Mutation CTT,TTT L468F XP_016874043.1
XM_017018555.1 1467 Missense Mutation CTT,TTT L266F XP_016874044.1
XM_017018556.1 1467 Missense Mutation CTT,TTT L216F XP_016874045.1
XM_017018557.1 1467 Intron XP_016874046.1

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