Product Details

SNP ID

rs143903812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3610792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTTCTGAACAATGCCTCGGCAC[A/C]GAGCCCGGGTCACGTGCCCCAGGGA

Phenotype

MIM: 605060 MIM: 602076

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SHPK PubMed Links

Gene Details

Gene

SHPK

Gene Name

sedoheptulokinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013276.2	1308	Missense Mutation	CGG,CTG	R402L	NP_037408.2

Gene

TRPV1

Gene Name

transient receptor potential cation channel subfamily V member 1

There are no transcripts associated with this gene.

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