Product Details

SNP ID

rs201454875

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:786643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGTCAAGCTCCCCTCGGAGTTG[A/G]CCTCCATGGCGGCCTGGGCCTCGGC

Phenotype

MIM: 605032

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPLX1 PubMed Links

Gene Details

Gene

CPLX1

Gene Name

complexin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006651.3	385	Missense Mutation	GCC,GTC	A88V	NP_006642.1
XM_011513391.1	385	Missense Mutation	GCC,GTC	A73V	XP_011511693.1

Gene

LOC100129917

Gene Name

uncharacterized LOC100129917

There are no transcripts associated with this gene.

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