Product Details

SNP ID

rs144573341

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142908703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCCCACTCTCAGCCCCAGAGGG[A/C]TGTTTCTCAGATGGATGCTCCTGGT

Phenotype

MIM: 606679

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TRPV5 PubMed Links

Gene Details

Gene

TRPV5

Gene Name

transient receptor potential cation channel subfamily V member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019841.6	2265	Missense Mutation	CAG,CAT	Q667H	NP_062815.3

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