Product Details

SNP ID
rs28652922
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35650983 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTGGTTTTCATGATCTCTCATCT[A/C]TCTCTCCTTCTGTATTGTTTATAAT
Phenotype
MIM: 604205 MIM: 607179
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CPNE1 PubMed Links

Gene Details

Gene
CPNE1
Gene Name
copine 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198863.1 4612 Intron NP_001185792.1
NM_003915.5 4612 Intron NP_003906.2
NM_152925.2 4612 Intron NP_690902.1
NM_152926.2 4612 Intron NP_690903.1
NM_152927.2 4612 Intron NP_690904.1
NM_152928.2 4612 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 4612 UTR 3 NP_001185767.1
NM_001198840.1 4612 UTR 3 NP_001185769.1
NM_006047.5 4612 UTR 3 NP_006038.2
NM_152838.3 4612 UTR 3 NP_690051.1

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