Product Details

SNP ID
rs150317541
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35627306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCAGTCCCCTGATGTGCAGCCT[C/G]GGCTGCAAACCTGGCCACATGGTTG
Phenotype
MIM: 604205 MIM: 603038
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
CPNE1 PubMed Links
Additional Information
For this assay, SNP(s) [rs147019139] 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 1407 Missense Mutation CAG,GAG Q404E NP_001185792.1
NM_003915.5 1407 Missense Mutation CAG,GAG Q409E NP_003906.2
NM_152925.2 1407 Missense Mutation CAG,GAG Q404E NP_690902.1
NM_152926.2 1407 Missense Mutation CAG,GAG Q404E NP_690903.1
NM_152927.2 1407 Missense Mutation CAG,GAG Q404E NP_690904.1
NM_152928.2 1407 Missense Mutation CAG,GAG Q404E NP_690905.1
Gene
SPAG4
Gene Name
sperm associated antigen 4
There are no transcripts associated with this gene.

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