Product Details

SNP ID

rs17092915

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35651548 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTTTAAAAACCTAGATATAACACT[C/T]TCTTATGAATGGGCCCCTCTTTGTT

Phenotype

MIM: 604205 MIM: 607179

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CPNE1 PubMed Links

Additional Information

For this assay, SNP(s) [rs76401607] 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

CPNE1

Gene Name

copine 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198863.1	4047	Intron			NP_001185792.1
NM_003915.5	4047	Intron			NP_003906.2
NM_152925.2	4047	Intron			NP_690902.1
NM_152926.2	4047	Intron			NP_690903.1
NM_152927.2	4047	Intron			NP_690904.1
NM_152928.2	4047	Intron			NP_690905.1

Gene

RBM12

Gene Name

RNA binding motif protein 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198838.1	4047	UTR 3			NP_001185767.1
NM_001198840.1	4047	UTR 3			NP_001185769.1
NM_006047.5	4047	UTR 3			NP_006038.2
NM_152838.3	4047	UTR 3			NP_690051.1

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