Product Details

SNP ID

rs9944362

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89578937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTGCTGGACACTGCGCTAAGCA[A/C]TTCCTGTGCTGCACGGAATCCTCAC

Phenotype

MIM: 605689

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CPNE7 PubMed Links

Additional Information

For this assay, SNP(s) [rs78176582,rs78990556] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CPNE7

Gene Name

copine 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014427.4	532	Missense Mutation	CAA,CAC	Q146H	NP_055242.1
NM_153636.2	532	Intron			NP_705900.1
XM_011523000.1	532	Intron			XP_011521302.1
XM_011523001.2	532	Intron			XP_011521303.1
XM_017023138.1	532	Missense Mutation	CAA,CAC	Q146H	XP_016878627.1
XM_017023139.1	532	Missense Mutation	CAA,CAC	Q150H	XP_016878628.1
XM_017023140.1	532	Intron			XP_016878629.1
XM_017023141.1	532	Intron			XP_016878630.1

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