Product Details
- SNP ID
-
rs199738061
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:47414582 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGCAGGCCGCTTACCTGGTCAATG[C/T]ACACGGTCGTGATGGCCCCTGAGTG
- Phenotype
-
MIM: 606584
MIM: 601510
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PTPN23
PubMed Links
Gene Details
- Gene
- PTPN23
- Gene Name
- protein tyrosine phosphatase, non-receptor type 23
There are no transcripts associated with this gene.
- Gene
- SCAP
- Gene Name
- SREBF chaperone
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001320044.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y870C |
NP_001306973.1 |
| NM_012235.3 |
3305 |
Missense Mutation |
TAC,TGC |
Y1126C |
NP_036367.2 |
| XM_005264967.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y1125C |
XP_005265024.1 |
| XM_005264968.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y871C |
XP_005265025.1 |
| XM_005264971.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y734C |
XP_005265028.1 |
| XM_011533501.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y1126C |
XP_011531803.1 |
| XM_011533502.2 |
3305 |
Missense Mutation |
TAC,TGC |
Y745C |
XP_011531804.1 |
| XM_017005918.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y1126C |
XP_016861407.1 |
| XM_017005919.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y896C |
XP_016861408.1 |
| XM_017005920.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y895C |
XP_016861409.1 |
| XM_017005921.1 |
3305 |
Missense Mutation |
TAC,TGC |
Y733C |
XP_016861410.1 |
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