Product Details
- SNP ID
-
rs17002693
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:56564577 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AACCCAGACATAATGAGGCAGACAC[A/T]CGAAATTGCCAGGAATCCAGCCATG
- Phenotype
-
MIM: 300264
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
UBQLN2
PubMed Links
Gene Details
- Gene
- UBQLN2
- Gene Name
- ubiquilin 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_013444.3 |
985 |
Missense Mutation |
CAC,CTC |
H235L |
NP_038472.2 |
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