Product Details

SNP ID

rs142967989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:22454041 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGAGAAAACCACTGACTCCTCCT[C/T]CCTAAATAATAGTGCACAGGAAAAT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C2CD5 PubMed Links

Gene Details

Gene

C2CD5

Gene Name

C2 calcium dependent domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286173.1	2150	Missense Mutation	GAA,GGA	E962G	NP_001273102.1
NM_001286174.1	2150	Missense Mutation	GAA,GGA	E960G	NP_001273103.1
NM_001286175.1	2150	Missense Mutation	GAA,GGA	E963G	NP_001273104.1
NM_001286176.1	2150	Missense Mutation	GAA,GGA	E960G	NP_001273105.1
NM_001286177.1	2150	Missense Mutation	GAA,GGA	E951G	NP_001273106.1
NM_014802.2	2150	Missense Mutation	GAA,GGA	E909G	NP_055617.1
XM_005253538.2	2150	Missense Mutation	GAA,GGA	E900G	XP_005253595.1
XM_005253539.3	2150	Missense Mutation	GAA,GGA	E582G	XP_005253596.1
XM_006719170.2	2150	Missense Mutation	GAA,GGA	E926G	XP_006719233.1
XM_017020264.1	2150	Missense Mutation	GAA,GGA	E1070G	XP_016875753.1
XM_017020265.1	2150	Missense Mutation	GAA,GGA	E1060G	XP_016875754.1
XM_017020266.1	2150	Missense Mutation	GAA,GGA	E1053G	XP_016875755.1
XM_017020267.1	2150	Missense Mutation	GAA,GGA	E1046G	XP_016875756.1
XM_017020268.1	2150	Missense Mutation	GAA,GGA	E1024G	XP_016875757.1
XM_017020269.1	2150	Missense Mutation	GAA,GGA	E1019G	XP_016875758.1
XM_017020270.1	2150	Missense Mutation	GAA,GGA	E1006G	XP_016875759.1
XM_017020271.1	2150	Missense Mutation	GAA,GGA	E997G	XP_016875760.1
XM_017020272.1	2150	Missense Mutation	GAA,GGA	E973G	XP_016875761.1
XM_017020273.1	2150	Missense Mutation	GAA,GGA	E956G	XP_016875762.1
XM_017020274.1	2150	Missense Mutation	GAA,GGA	E950G	XP_016875763.1
XM_017020275.1	2150	Missense Mutation	GAA,GGA	E946G	XP_016875764.1
XM_017020276.1	2150	Missense Mutation	GAA,GGA	E941G	XP_016875765.1
XM_017020277.1	2150	Missense Mutation	GAA,GGA	E934G	XP_016875766.1
XM_017020278.1	2150	Missense Mutation	GAA,GGA	E922G	XP_016875767.1
XM_017020279.1	2150	Missense Mutation	GAA,GGA	E688G	XP_016875768.1

View Full Product Details