Product Details

SNP ID

rs144264665

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:142941345 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTGGGGTGCTGCTGAGGGGCCC[A/G]TGGACTCGGAGGTGTGGAGGGCTGT

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	1487	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	1487	Silent Mutation	CAC,CAT	H702H	NP_000411.1
XM_005249993.2	1487	Silent Mutation	CAC,CAT	H714H	XP_005250050.1
XM_005249994.3	1487	Silent Mutation	CAC,CAT	H393H	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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