Product Details

SNP ID

rs72556347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:18132136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCATAAGTCCACAAACTTACCAA[G/A]CAACCTTTCAATTTCAGCATGTGGA

Phenotype

MIM: 608072 MIM: 187680

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

NHLRC1 PubMed Links

Gene Details

Gene

NHLRC1

Gene Name

NHL repeat containing E3 ubiquitin protein ligase 1

There are no transcripts associated with this gene.

Gene

TPMT

Gene Name

thiopurine S-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000367.3	1093	Missense Mutation	CTT,TTT	L208F	NP_000358.1
XM_011514839.2	1093	Intron			XP_011513141.1
XM_017011241.1	1093	Missense Mutation	CTT,TTT	L208F	XP_016866730.1

View Full Product Details