Product Details
- SNP ID
-
rs112987834
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:177033095 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTCAAGGTATGGATGCATATCCCT[C/T]GGTCTACATCCCATAACCTAACAGT
- Phenotype
-
MIM: 608628
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TBL1XR1
PubMed Links
Gene Details
- Gene
- TBL1XR1
- Gene Name
- transducin (beta)-like 1 X-linked receptor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001321193.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
NP_001308122.1 |
NM_001321194.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
NP_001308123.1 |
NM_001321195.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q344R |
NP_001308124.1 |
NM_024665.5 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
NP_078941.2 |
XM_005247775.2 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_005247832.1 |
XM_006713746.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_006713809.1 |
XM_011513141.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_011511443.1 |
XM_011513142.2 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_011511444.1 |
XM_011513143.2 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_011511445.1 |
XM_017007185.1 |
1469 |
Missense Mutation |
CAA,CGA |
Q431R |
XP_016862674.1 |
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