Product Details

SNP ID

rs143599552

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53534169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCACGGTCAGCTTGATCGAAA[A/G]AACGCAATGCTCTCCAGAACCACTG

Phenotype

MIM: 300697

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HUWE1 PubMed Links

Gene Details

Gene

HUWE1

Gene Name

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031407.6	16255	Missense Mutation	TCT,TTT	S4287F	NP_113584.3
XM_005261965.3	16255	Missense Mutation	TCT,TTT	S4287F	XP_005262022.1
XM_011530747.1	16255	Missense Mutation	TCT,TTT	S4370F	XP_011529049.1
XM_011530751.2	16255	Missense Mutation	TCT,TTT	S4370F	XP_011529053.1
XM_017029191.1	16255	Missense Mutation	TCT,TTT	S4414F	XP_016884680.1
XM_017029192.1	16255	Missense Mutation	TCT,TTT	S4413F	XP_016884681.1
XM_017029193.1	16255	Missense Mutation	TCT,TTT	S4407F	XP_016884682.1
XM_017029194.1	16255	Missense Mutation	TCT,TTT	S4399F	XP_016884683.1
XM_017029195.1	16255	Missense Mutation	TCT,TTT	S4398F	XP_016884684.1
XM_017029196.1	16255	Missense Mutation	TCT,TTT	S4397F	XP_016884685.1
XM_017029197.1	16255	Missense Mutation	TCT,TTT	S4381F	XP_016884686.1
XM_017029198.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884687.1
XM_017029199.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884688.1
XM_017029200.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884689.1
XM_017029201.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884690.1
XM_017029202.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884691.1
XM_017029203.1	16255	Missense Mutation	TCT,TTT	S4377F	XP_016884692.1
XM_017029204.1	16255	Missense Mutation	TCT,TTT	S4331F	XP_016884693.1
XM_017029205.1	16255	Missense Mutation	TCT,TTT	S4290F	XP_016884694.1
XM_017029206.1	16255	Missense Mutation	TCT,TTT	S4280F	XP_016884695.1

View Full Product Details