Product Details

SNP ID

rs141609728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:94708574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAGTTCATTGTTATCAATTGCAT[A/G]TGGACTCCGAAGCTTTTTTGTAAAT

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	2267	Missense Mutation	CAT,TAT	H735Y	NP_001002796.1
NM_001297777.1	2267	Missense Mutation	CAT,TAT	H649Y	NP_001284706.1
NM_024717.5	2267	Missense Mutation	CAT,TAT	H956Y	NP_078993.4
XM_005272082.4	2267	Missense Mutation	CAT,TAT	H750Y	XP_005272139.1
XM_005272090.4	2267	Missense Mutation	CAT,TAT	H689Y	XP_005272147.1
XM_006714692.3	2267	Missense Mutation	CAT,TAT	H691Y	XP_006714755.1
XM_011543649.2	2267	Missense Mutation	CAT,TAT	H697Y	XP_011541951.1
XM_011543650.2	2267	Missense Mutation	CAT,TAT	H617Y	XP_011541952.1
XM_017009855.1	2267	Missense Mutation	CAT,TAT	H684Y	XP_016865344.1
XM_017009856.1	2267	Missense Mutation	CAT,TAT	H735Y	XP_016865345.1
XM_017009857.1	2267	Missense Mutation	CAT,TAT	H671Y	XP_016865346.1
XM_017009858.1	2267	Missense Mutation	CAT,TAT	H658Y	XP_016865347.1
XM_017009859.1	2267	Missense Mutation	CAT,TAT	H657Y	XP_016865348.1
XM_017009860.1	2267	Missense Mutation	CAT,TAT	H709Y	XP_016865349.1
XM_017009861.1	2267	Missense Mutation	CAT,TAT	H651Y	XP_016865350.1
XM_017009862.1	2267	Missense Mutation	CAT,TAT	H638Y	XP_016865351.1
XM_017009863.1	2267	Missense Mutation	CAT,TAT	H676Y	XP_016865352.1
XM_017009864.1	2267	Missense Mutation	CAT,TAT	H651Y	XP_016865353.1
XM_017009865.1	2267	Intron			XP_016865354.1

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