Product Details

SNP ID

rs139409733

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49208621 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGTGAATCTGGAAGTCTGTCCC[A/C]GACAGGCAGAGACACAGAAATCCCG

Phenotype

MIM: 300110 MIM: 313475

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CACNA1F PubMed Links

Gene Details

Gene

CACNA1F

Gene Name

calcium voltage-gated channel subunit alpha1 F

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256789.2	2348	Missense Mutation	AGG,CGG	R1673R	NP_001243718.1
NM_001256790.2	2348	Missense Mutation	AGG,CGG	R1619R	NP_001243719.1
NM_005183.3	2348	Missense Mutation	AGG,CGG	R1684R	NP_005174.2
XM_011543983.2	2348	Missense Mutation	AGG,CGG	R1612R	XP_011542285.1
XM_017029836.1	2348	Missense Mutation	AGG,CGG	R755R	XP_016885325.1

Gene

SYP

Gene Name

synaptophysin

There are no transcripts associated with this gene.

Gene

SYP-AS1

Gene Name

SYP antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details