Product Details

SNP ID

rs71635531

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:201039935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCCAGGGAGCTGGCCATGCCCT[C/T]TGGGGCCTCTCGTCCTTTCAGTAGC

Phenotype

MIM: 114208

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CACNA1S PubMed Links

Gene Details

Gene

CACNA1S

Gene Name

calcium voltage-gated channel subunit alpha1 S

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000069.2	5745	Missense Mutation	AAG,GAG	K1840E	NP_000060.2
XM_005245478.3	5745	Missense Mutation	AAG,GAG	K1821E	XP_005245535.1

Gene

LOC101929305

Gene Name

uncharacterized LOC101929305

There are no transcripts associated with this gene.

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