Product Details

SNP ID

rs34964084

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.4:8592850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCCACCATGCCGCCCCCGCTGC[C/T]GCTGCTGCTCCTTACAGTCCTGGTC

Phenotype

MIM: 603105 MIM: 606921

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CPZ PubMed Links

Additional Information

For this assay, SNP(s) [rs2302583,rs76756393] are located under a probe 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

CPZ

Gene Name

carboxypeptidase Z

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014447.2	191	Missense Mutation	CCG,CTG	P6L	NP_001014447.1
NM_001014448.2	191	UTR 5			NP_001014448.1
NM_003652.3	191	Missense Mutation	CCG,CTG	P6L	NP_003643.2

Gene

GPR78

Gene Name

G protein-coupled receptor 78

There are no transcripts associated with this gene.

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