Product Details

SNP ID

rs200978983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:18159974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATAGCCTTCCTTTGAGGAGCTCC[A/G]GTAGGCAGGTAGTGTTCATTTATTC

Phenotype

MIM: 613081 MIM: 187680

Polymorphism

A/G, 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	320	Missense Mutation	AGT,GGT	S27G	NP_694587.3
XM_005248925.1	320	Missense Mutation	AGT,GGT	S27G	XP_005248982.1
XM_005248926.1	320	Missense Mutation	AGT,GGT	S27G	XP_005248983.1
XM_005248928.1	320	Missense Mutation	AGT,GGT	S27G	XP_005248985.1
XM_011514385.1	320	Missense Mutation	AGT,GGT	S27G	XP_011512687.1
XM_011514386.1	320	Missense Mutation	AGT,GGT	S27G	XP_011512688.1
XM_017010440.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865929.1
XM_017010441.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865930.1
XM_017010442.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865931.1
XM_017010443.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865932.1
XM_017010445.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865934.1
XM_017010446.1	320	Missense Mutation	AGT,GGT	S27G	XP_016865935.1

Gene

TPMT

Gene Name

thiopurine S-methyltransferase

There are no transcripts associated with this gene.

View Full Product Details