Product Details

SNP ID

rs35027175

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:94708570 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAAGTAGTTCATTGTTATCAATT[A/G]CATATGGACTCCGAAGCTTTTTTGT

Phenotype

MIM: 616296

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MCTP1 PubMed Links

Gene Details

Gene

MCTP1

Gene Name

multiple C2 and transmembrane domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002796.3	2271	Missense Mutation	GCA,GTA	A736V	NP_001002796.1
NM_001297777.1	2271	Missense Mutation	GCA,GTA	A650V	NP_001284706.1
NM_024717.5	2271	Missense Mutation	GCA,GTA	A957V	NP_078993.4
XM_005272082.4	2271	Missense Mutation	GCA,GTA	A751V	XP_005272139.1
XM_005272090.4	2271	Missense Mutation	GCA,GTA	A690V	XP_005272147.1
XM_006714692.3	2271	Missense Mutation	GCA,GTA	A692V	XP_006714755.1
XM_011543649.2	2271	Missense Mutation	GCA,GTA	A698V	XP_011541951.1
XM_011543650.2	2271	Missense Mutation	GCA,GTA	A618V	XP_011541952.1
XM_017009855.1	2271	Missense Mutation	GCA,GTA	A685V	XP_016865344.1
XM_017009856.1	2271	Missense Mutation	GCA,GTA	A736V	XP_016865345.1
XM_017009857.1	2271	Missense Mutation	GCA,GTA	A672V	XP_016865346.1
XM_017009858.1	2271	Missense Mutation	GCA,GTA	A659V	XP_016865347.1
XM_017009859.1	2271	Missense Mutation	GCA,GTA	A658V	XP_016865348.1
XM_017009860.1	2271	Missense Mutation	GCA,GTA	A710V	XP_016865349.1
XM_017009861.1	2271	Missense Mutation	GCA,GTA	A652V	XP_016865350.1
XM_017009862.1	2271	Missense Mutation	GCA,GTA	A639V	XP_016865351.1
XM_017009863.1	2271	Missense Mutation	GCA,GTA	A677V	XP_016865352.1
XM_017009864.1	2271	Missense Mutation	GCA,GTA	A652V	XP_016865353.1
XM_017009865.1	2271	Intron			XP_016865354.1

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