Product Details

SNP ID

rs200335748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142939599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCACTGGGAGCAGGGGGCGGCC[A/G]AAGGCAGTGGGTGGGCAGGTCCATG

Phenotype

MIM: 613883 MIM: 606679

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C7orf34 PubMed Links

Gene Details

Gene

C7orf34

Gene Name

chromosome 7 open reading frame 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178829.4	94	Missense Mutation	CAA,CGA	Q18R	NP_849151.2

Gene

KEL

Gene Name

Kell blood group, metallo-endopeptidase

There are no transcripts associated with this gene.

Gene

TRPV5

Gene Name

transient receptor potential cation channel subfamily V member 5

There are no transcripts associated with this gene.

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