Product Details
- SNP ID
-
rs200543090
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:73499120 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGTAGTTCAAAGTCCTTCCTGTGT[A/G]CTTGGCCCCTTGGGAAGTTTCACCC
- Phenotype
-
MIM: 114106
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PPP3CB
PubMed Links
Gene Details
- Gene
- PPP3CB
- Gene Name
- protein phosphatase 3 catalytic subunit beta
There are no transcripts associated with this gene.
- Gene
- PPP3CB-AS1
- Gene Name
- PPP3CB antisense RNA 1 (head to head)
There are no transcripts associated with this gene.
- Gene
- USP54
- Gene Name
- ubiquitin specific peptidase 54
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320437.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1460Y |
NP_001307366.1 |
| NM_001320441.1 |
4468 |
Intron |
|
|
NP_001307370.1 |
| NM_152586.3 |
4468 |
Missense Mutation |
CAC,TAC |
H1522Y |
NP_689799.3 |
| XM_005269582.2 |
4468 |
Missense Mutation |
CAC,TAC |
H1418Y |
XP_005269639.1 |
| XM_011539368.2 |
4468 |
Missense Mutation |
CAC,TAC |
H1487Y |
XP_011537670.1 |
| XM_017015759.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871248.1 |
| XM_017015760.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871249.1 |
| XM_017015761.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871250.1 |
| XM_017015762.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871251.1 |
| XM_017015763.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871252.1 |
| XM_017015764.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871253.1 |
| XM_017015765.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871254.1 |
| XM_017015766.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871255.1 |
| XM_017015767.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871256.1 |
| XM_017015768.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871257.1 |
| XM_017015769.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871258.1 |
| XM_017015770.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1546Y |
XP_016871259.1 |
| XM_017015771.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1544Y |
XP_016871260.1 |
| XM_017015772.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1541Y |
XP_016871261.1 |
| XM_017015773.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1524Y |
XP_016871262.1 |
| XM_017015774.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1522Y |
XP_016871263.1 |
| XM_017015775.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1522Y |
XP_016871264.1 |
| XM_017015776.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1522Y |
XP_016871265.1 |
| XM_017015777.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1522Y |
XP_016871266.1 |
| XM_017015778.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1506Y |
XP_016871267.1 |
| XM_017015779.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1499Y |
XP_016871268.1 |
| XM_017015780.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1494Y |
XP_016871269.1 |
| XM_017015781.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1489Y |
XP_016871270.1 |
| XM_017015782.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1482Y |
XP_016871271.1 |
| XM_017015783.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1465Y |
XP_016871272.1 |
| XM_017015784.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1465Y |
XP_016871273.1 |
| XM_017015785.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1459Y |
XP_016871274.1 |
| XM_017015786.1 |
4468 |
Missense Mutation |
CAC,TAC |
H1425Y |
XP_016871275.1 |
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