Product Details

SNP ID

rs140850172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:18121926 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCGCATCAGTTACCACAATCCC[A/T]TTCTGAGGGGTGGTCTCCACACCCC

Phenotype

MIM: 608072 MIM: 187680

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NHLRC1 PubMed Links

Gene Details

Gene

NHLRC1

Gene Name

NHL repeat containing E3 ubiquitin protein ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198586.2	695	Missense Mutation	AAA,AAT	K227N	NP_940988.2

Gene

TPMT

Gene Name

thiopurine S-methyltransferase

There are no transcripts associated with this gene.

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