Product Details

SNP ID

rs122467170

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49251480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGACTCAGGTTGTGGCGGATGG[T/C]GTTCTGTGGAAGGCCGGGGACAGGG

Phenotype

MIM: 300859 MIM: 300292

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

CCDC22 PubMed Links

Gene Details

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	1338	Intron			NP_054727.1
XM_005272599.3	1338	Intron			XP_005272656.1

Gene

FOXP3

Gene Name

forkhead box P3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114377.1	1338	Missense Mutation	ACC,GCC	T349A	NP_001107849.1
NM_014009.3	1338	Missense Mutation	ACC,GCC	T384A	NP_054728.2
XM_006724533.2	1338	Missense Mutation	ACC,GCC	T407A	XP_006724596.2
XM_011543916.2	1338	Missense Mutation	ACC,GCC	T517A	XP_011542218.1
XM_017029565.1	1338	Missense Mutation	ACC,GCC	T469A	XP_016885054.1
XM_017029566.1	1338	Missense Mutation	ACC,GCC	T457A	XP_016885055.1
XM_017029567.1	1338	Missense Mutation	ACC,GCC	T426A	XP_016885056.1

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