Product Details

SNP ID

rs200409299

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:31106685 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTAAGTGGAGGCCCAGAACCTGAT[G/T]GATTCTTCAGCACTAGTTCCTGTAA

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HECTD1 PubMed Links

Gene Details

Gene

HECTD1

Gene Name

HECT domain E3 ubiquitin protein ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015382.3	7067	Missense Mutation	CAA,CCA	Q2396P	NP_056197.3
XM_005267502.2	7067	Missense Mutation	CAA,CCA	Q2396P	XP_005267559.2
XM_011536619.2	7067	Missense Mutation	CAA,CCA	Q2394P	XP_011534921.1
XM_011536621.2	7067	Missense Mutation	CAA,CCA	Q2117P	XP_011534923.1
XM_011536622.1	7067	Missense Mutation	CAA,CCA	Q1846P	XP_011534924.1
XM_017021148.1	7067	Missense Mutation	CAA,CCA	Q2349P	XP_016876637.1
XM_017021149.1	7067	Missense Mutation	CAA,CCA	Q2347P	XP_016876638.1
XM_017021150.1	7067	Missense Mutation	CAA,CCA	Q2335P	XP_016876639.1
XM_017021151.1	7067	Missense Mutation	CAA,CCA	Q2117P	XP_016876640.1
XM_017021152.1	7067	Missense Mutation	CAA,CCA	Q2115P	XP_016876641.1
XM_017021153.1	7067	Missense Mutation	CAA,CCA	Q2115P	XP_016876642.1

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