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