Product Details

SNP ID

rs200591905

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49243161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTCCATGCCAGCAGGCTGGTCG[C/T]GCCAGAATTGAGTTCCAGAGGTGGT

Phenotype

MIM: 300110 MIM: 300859 MIM: 300292

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

There are no transcripts associated with this gene.

Gene

CCDC22

Gene Name

coiled-coil domain containing 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014008.4	682	Missense Mutation	GCG,GTG	A171V	NP_054727.1
XM_005272599.3	682	Missense Mutation	GCG,GTG	A171V	XP_005272656.1

Gene

FOXP3

Gene Name

forkhead box P3

There are no transcripts associated with this gene.

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