Product Details

SNP ID

rs6121014

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35652731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATCTCATCAATAGACACAGTAAA[A/G]GGCATGTTTTGCACTTTAATTACTG

Phenotype

MIM: 604205 MIM: 607179

Polymorphism

A/G, Transition 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	2864	Intron			NP_001185792.1
NM_003915.5	2864	Intron			NP_003906.2
NM_152925.2	2864	Intron			NP_690902.1
NM_152926.2	2864	Intron			NP_690903.1
NM_152927.2	2864	Intron			NP_690904.1
NM_152928.2	2864	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	2864	Silent Mutation	CCC,CCT	P864P	NP_001185767.1
NM_001198840.1	2864	Silent Mutation	CCC,CCT	P864P	NP_001185769.1
NM_006047.5	2864	Silent Mutation	CCC,CCT	P864P	NP_006038.2
NM_152838.3	2864	Silent Mutation	CCC,CCT	P864P	NP_690051.1

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