Product Details

SNP ID

rs35498344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:22457143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATTTCCATCACCCACTGGACTT[A/G]CTTTTTCAACTGTCATGGCTAAAAT

Phenotype

Polymorphism

A/G, 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	1976	Missense Mutation	GCA,GTA	A904V	NP_001273102.1
NM_001286174.1	1976	Missense Mutation	GCA,GTA	A902V	NP_001273103.1
NM_001286175.1	1976	Missense Mutation	GCA,GTA	A905V	NP_001273104.1
NM_001286176.1	1976	Missense Mutation	GCA,GTA	A902V	NP_001273105.1
NM_001286177.1	1976	Missense Mutation	GCA,GTA	A893V	NP_001273106.1
NM_014802.2	1976	Missense Mutation	GCA,GTA	A851V	NP_055617.1
XM_005253538.2	1976	Missense Mutation	GCA,GTA	A842V	XP_005253595.1
XM_005253539.3	1976	Missense Mutation	GCA,GTA	A524V	XP_005253596.1
XM_006719170.2	1976	Missense Mutation	GCA,GTA	A868V	XP_006719233.1
XM_017020264.1	1976	Missense Mutation	GCA,GTA	A1012V	XP_016875753.1
XM_017020265.1	1976	Missense Mutation	GCA,GTA	A1002V	XP_016875754.1
XM_017020266.1	1976	Missense Mutation	GCA,GTA	A995V	XP_016875755.1
XM_017020267.1	1976	Missense Mutation	GCA,GTA	A988V	XP_016875756.1
XM_017020268.1	1976	Missense Mutation	GCA,GTA	A966V	XP_016875757.1
XM_017020269.1	1976	Missense Mutation	GCA,GTA	A961V	XP_016875758.1
XM_017020270.1	1976	Missense Mutation	GCA,GTA	A948V	XP_016875759.1
XM_017020271.1	1976	Missense Mutation	GCA,GTA	A939V	XP_016875760.1
XM_017020272.1	1976	Missense Mutation	GCA,GTA	A915V	XP_016875761.1
XM_017020273.1	1976	Missense Mutation	GCA,GTA	A898V	XP_016875762.1
XM_017020274.1	1976	Missense Mutation	GCA,GTA	A892V	XP_016875763.1
XM_017020275.1	1976	Missense Mutation	GCA,GTA	A888V	XP_016875764.1
XM_017020276.1	1976	Missense Mutation	GCA,GTA	A883V	XP_016875765.1
XM_017020277.1	1976	Missense Mutation	GCA,GTA	A876V	XP_016875766.1
XM_017020278.1	1976	Missense Mutation	GCA,GTA	A864V	XP_016875767.1
XM_017020279.1	1976	Missense Mutation	GCA,GTA	A630V	XP_016875768.1

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