Product Details

SNP ID

rs146586055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:9712824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTTCTACAGGAGCAATGAGGAT[G/T]GCACGTGAGTCACTGCCATCAGGGC

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CPNE9 PubMed Links

Gene Details

Gene

CPNE9

Gene Name

copine family member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308388.1	888	Missense Mutation	GGC,TGC	G181C	NP_001295317.1
NM_153635.2	888	Missense Mutation	GGC,TGC	G181C	NP_705899.2
XM_011533386.2	888	Missense Mutation	GGC,TGC	G290C	XP_011531688.1
XM_011533388.2	888	Missense Mutation	GGC,TGC	G290C	XP_011531690.1
XM_011533389.2	888	Missense Mutation	GGC,TGC	G290C	XP_011531691.1
XM_017005747.1	888	UTR 5			XP_016861236.1

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