Product Details

SNP ID

rs146137167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:96353704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAAAATTGAGATATTCTTCAAGT[C/T]GACCATATTTCTGCATATACAATAG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC82 PubMed Links

Gene Details

Gene

CCDC82

Gene Name

coiled-coil domain containing 82

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318736.1	1926	Missense Mutation	CAA,CGA	Q526R	NP_001305665.1
NM_001318737.1	1926	Intron			NP_001305666.1
NM_024725.3	1926	Missense Mutation	CAA,CGA	Q526R	NP_079001.2
XM_005274292.3	1926	Missense Mutation	CAA,CGA	Q526R	XP_005274349.1
XM_006718911.3	1926	Missense Mutation	CAA,CGA	Q503R	XP_006718974.1
XM_011542984.2	1926	Missense Mutation	CAA,CGA	Q526R	XP_011541286.1
XM_011542987.2	1926	Missense Mutation	CAA,CGA	Q526R	XP_011541289.1
XM_011542988.2	1926	Missense Mutation	CAA,CGA	Q526R	XP_011541290.1
XM_017018305.1	1926	Missense Mutation	CAA,CGA	Q526R	XP_016873794.1
XM_017018306.1	1926	Missense Mutation	CAA,CGA	Q526R	XP_016873795.1
XM_017018307.1	1926	Missense Mutation	CAA,CGA	Q526R	XP_016873796.1
XM_017018308.1	1926	Missense Mutation	CAA,CGA	Q526R	XP_016873797.1
XM_017018309.1	1926	UTR 3			XP_016873798.1
XM_017018310.1	1926	UTR 3			XP_016873799.1
XM_017018311.1	1926	Missense Mutation	CAA,CGA	Q503R	XP_016873800.1
XM_017018312.1	1926	Missense Mutation	CAA,CGA	Q503R	XP_016873801.1

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