Product Details

SNP ID

rs200534471

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:18159941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAAAGAAAAAAGCATCTTTTGAT[C/T]ATTCTCCGGATAGCCTTCCTTTGAG

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	287	Missense Mutation	CAT,TAT	H16Y	NP_694587.3
XM_005248925.1	287	Missense Mutation	CAT,TAT	H16Y	XP_005248982.1
XM_005248926.1	287	Missense Mutation	CAT,TAT	H16Y	XP_005248983.1
XM_005248928.1	287	Missense Mutation	CAT,TAT	H16Y	XP_005248985.1
XM_011514385.1	287	Missense Mutation	CAT,TAT	H16Y	XP_011512687.1
XM_011514386.1	287	Missense Mutation	CAT,TAT	H16Y	XP_011512688.1
XM_017010440.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865929.1
XM_017010441.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865930.1
XM_017010442.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865931.1
XM_017010443.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865932.1
XM_017010445.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865934.1
XM_017010446.1	287	Missense Mutation	CAT,TAT	H16Y	XP_016865935.1

Gene

TPMT

Gene Name

thiopurine S-methyltransferase

There are no transcripts associated with this gene.

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