Product Details

SNP ID
rs148087354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:18161328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAACATCAGCTGTGACTCCCTTAGG[C/T]GAAGAAGAAAGCAACAGAGACAACA
Phenotype
MIM: 613081 MIM: 187680
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KDM1B PubMed Links

Gene Details

Gene
KDM1B
Gene Name
lysine demethylase 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153042.3 330 Missense Mutation GCG,GTG A30V NP_694587.3
XM_005248925.1 330 Missense Mutation GCG,GTG A30V XP_005248982.1
XM_005248926.1 330 Missense Mutation GCG,GTG A30V XP_005248983.1
XM_005248928.1 330 Missense Mutation GCG,GTG A30V XP_005248985.1
XM_011514385.1 330 Missense Mutation GCG,GTG A30V XP_011512687.1
XM_011514386.1 330 Missense Mutation GCG,GTG A30V XP_011512688.1
XM_017010440.1 330 Missense Mutation GCG,GTG A30V XP_016865929.1
XM_017010441.1 330 Missense Mutation GCG,GTG A30V XP_016865930.1
XM_017010442.1 330 Missense Mutation GCG,GTG A30V XP_016865931.1
XM_017010443.1 330 Missense Mutation GCG,GTG A30V XP_016865932.1
XM_017010445.1 330 Missense Mutation GCG,GTG A30V XP_016865934.1
XM_017010446.1 330 Missense Mutation GCG,GTG A30V XP_016865935.1
Gene
TPMT
Gene Name
thiopurine S-methyltransferase
There are no transcripts associated with this gene.

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