Product Details

SNP ID

rs144638713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35673616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCACTGACCTGATAGAAGAGTGC[A/G]CTAAATCCTCATCAGTGCCAATTGC

Phenotype

MIM: 604205 MIM: 603485 MIM: 607179

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPNE1 PubMed Links

Gene Details

Gene

CPNE1

Gene Name

copine 1

There are no transcripts associated with this gene.

Gene

NFS1

Gene Name

NFS1 cysteine desulfurase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198989.1	1129	Missense Mutation	GCG,GTG	A351V	NP_001185918.1
NM_021100.4	1129	Missense Mutation	GCG,GTG	A402V	NP_066923.3

Gene

RBM12

Gene Name

RNA binding motif protein 12

There are no transcripts associated with this gene.

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