Product Details

SNP ID

rs201119328

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:48207924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTTTAGGCCTGGGAATCAGGAG[C/T]GCTATGACAATTTCCTCCAAAGTGG

Phenotype

MIM: 600839

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTXN2 PubMed Links

Gene Details

Gene

CTXN2

Gene Name

cortexin 2

There are no transcripts associated with this gene.

Gene

SLC12A1

Gene Name

solute carrier family 12 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000338.2	421	Missense Mutation	CGC,TGC	R69C	NP_000329.2
NM_001184832.1	421	Missense Mutation	CGC,TGC	R69C	NP_001171761.1
XM_005254606.1	421	Missense Mutation	CGC,TGC	R69C	XP_005254663.1

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