Product Details
- SNP ID
-
rs121917899
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:48901944 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGGCCCCACAGCGGGCTCCCTTACT[A/G]CTGGAATGCAGACACAGACCTTGTA
- Phenotype
-
MIM: 300463
MIM: 314375
MIM: 300249
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PQBP1
PubMed Links
Gene Details
- Gene
- PQBP1
- Gene Name
- polyglutamine binding protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001032381.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001027553.1 |
| NM_001032382.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001027554.1 |
| NM_001032383.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001027555.1 |
| NM_001032384.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001027556.1 |
| NM_001167989.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001161461.1 |
| NM_001167990.1 |
273 |
Missense Mutation |
TAC,TGC |
Y57C |
NP_001161462.1 |
| NM_001167992.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_001161464.1 |
| NM_005710.2 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_005701.1 |
| NM_144495.2 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
NP_652766.1 |
| XM_005272571.3 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
XP_005272628.1 |
| XM_005272572.4 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
XP_005272629.1 |
| XM_011543884.2 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
XP_011542186.1 |
| XM_017029207.1 |
273 |
Missense Mutation |
TAC,TGC |
Y65C |
XP_016884696.1 |
- Gene
- SLC35A2
- Gene Name
- solute carrier family 35 member A2
There are no transcripts associated with this gene.
- Gene
- TIMM17B
- Gene Name
- translocase of inner mitochondrial membrane 17 homolog B (yeast)
There are no transcripts associated with this gene.
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