Product Details

SNP ID

rs143818136

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53534585 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGATCATCGATGTCAATGGTGGG[C/T]AGTCCTGATATAAGCAGCTCTAACT

Phenotype

MIM: 300697

Polymorphism

C/T, 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	16157	Silent Mutation	CTA,CTG	L4254L	NP_113584.3
XM_005261965.3	16157	Silent Mutation	CTA,CTG	L4254L	XP_005262022.1
XM_011530747.1	16157	Silent Mutation	CTA,CTG	L4337L	XP_011529049.1
XM_011530751.2	16157	Silent Mutation	CTA,CTG	L4337L	XP_011529053.1
XM_017029191.1	16157	Silent Mutation	CTA,CTG	L4381L	XP_016884680.1
XM_017029192.1	16157	Silent Mutation	CTA,CTG	L4380L	XP_016884681.1
XM_017029193.1	16157	Silent Mutation	CTA,CTG	L4374L	XP_016884682.1
XM_017029194.1	16157	Silent Mutation	CTA,CTG	L4366L	XP_016884683.1
XM_017029195.1	16157	Silent Mutation	CTA,CTG	L4365L	XP_016884684.1
XM_017029196.1	16157	Silent Mutation	CTA,CTG	L4364L	XP_016884685.1
XM_017029197.1	16157	Silent Mutation	CTA,CTG	L4348L	XP_016884686.1
XM_017029198.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884687.1
XM_017029199.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884688.1
XM_017029200.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884689.1
XM_017029201.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884690.1
XM_017029202.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884691.1
XM_017029203.1	16157	Silent Mutation	CTA,CTG	L4344L	XP_016884692.1
XM_017029204.1	16157	Silent Mutation	CTA,CTG	L4298L	XP_016884693.1
XM_017029205.1	16157	Silent Mutation	CTA,CTG	L4257L	XP_016884694.1
XM_017029206.1	16157	Silent Mutation	CTA,CTG	L4247L	XP_016884695.1

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