Product Details

SNP ID

rs144061962

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49208531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATAATACCTGTGGGTGTTGGATC[C/T]AGCCTGGGGCACACTGGGCTGACTG

Phenotype

MIM: 300110 MIM: 313475

Polymorphism

C/T, Transition 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	2438	Missense Mutation	AGA,GGA	R1703G	NP_001243718.1
NM_001256790.2	2438	Missense Mutation	AGA,GGA	R1649G	NP_001243719.1
NM_005183.3	2438	Missense Mutation	AGA,GGA	R1714G	NP_005174.2
XM_011543983.2	2438	Missense Mutation	AGA,GGA	R1642G	XP_011542285.1
XM_017029836.1	2438	Missense Mutation	AGA,GGA	R785G	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.

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