Product Details

SNP ID

rs185273234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:18161356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGAAAGCAACAGAGACAACAGA[A/T]GAGGATGAAGATGGTGGCTCAGAGA

Phenotype

MIM: 613081 MIM: 187680

Polymorphism

A/T, Transversion 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	358	Missense Mutation	GAA,GAT	E39D	NP_694587.3
XM_005248925.1	358	Missense Mutation	GAA,GAT	E39D	XP_005248982.1
XM_005248926.1	358	Missense Mutation	GAA,GAT	E39D	XP_005248983.1
XM_005248928.1	358	Missense Mutation	GAA,GAT	E39D	XP_005248985.1
XM_011514385.1	358	Missense Mutation	GAA,GAT	E39D	XP_011512687.1
XM_011514386.1	358	Missense Mutation	GAA,GAT	E39D	XP_011512688.1
XM_017010440.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865929.1
XM_017010441.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865930.1
XM_017010442.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865931.1
XM_017010443.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865932.1
XM_017010445.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865934.1
XM_017010446.1	358	Missense Mutation	GAA,GAT	E39D	XP_016865935.1

Gene

TPMT

Gene Name

thiopurine S-methyltransferase

There are no transcripts associated with this gene.

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