Product Details

SNP ID

rs189748482

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35669644 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTAGTGTTGGGTCCACTTGATG[C/T]TCTTGAGGTCAATGCCATCCTGAAC

Phenotype

MIM: 604205 MIM: 603485 MIM: 607179

Polymorphism

C/T, 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	1276	Missense Mutation	AAC,AGC	N400S	NP_001185918.1
NM_021100.4	1276	Missense Mutation	AAC,AGC	N451S	NP_066923.3

Gene

RBM12

Gene Name

RNA binding motif protein 12

There are no transcripts associated with this gene.

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