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SNP ID: rs191330570
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:142941344 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGGCTGGGGTGCTGCTGAGGGGCC[C/G]GTGGACTCGGAGGTGTGGAGGGCTG
Phenotype: MIM: 613883 MIM: 606679
Polymorphism: C/G, Transversion 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	1488	Intron			NP_849151.2

Gene: KEL
Gene Name: Kell blood group, metallo-endopeptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000420.2	1488	Missense Mutation	CGG,GGG	R703G	NP_000411.1
XM_005249993.2	1488	Missense Mutation	CGG,GGG	R715G	XP_005250050.1
XM_005249994.3	1488	Missense Mutation	CGG,GGG	R394G	XP_005250051.1

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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