Product Details

SNP ID
rs147329320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49208590 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCCCCCTGTCATCATCACTGGGC[C/T]CAAAGGAGAGTGAATCTGGAAGTCT
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 2379 Missense Mutation GAG,GGG E1683G NP_001243718.1
NM_001256790.2 2379 Missense Mutation GAG,GGG E1629G NP_001243719.1
NM_005183.3 2379 Missense Mutation GAG,GGG E1694G NP_005174.2
XM_011543983.2 2379 Missense Mutation GAG,GGG E1622G XP_011542285.1
XM_017029836.1 2379 Missense Mutation GAG,GGG E765G 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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