Product Details
- SNP ID
-
rs145661468
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:55182038 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACCTCAGTCTGCACCATCAACGGC[C/G]GACTCTCTCTCATCTTCCTTACAAA
- Phenotype
-
MIM: 602510
MIM: 600782
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PTPRH
PubMed Links
Gene Details
- Gene
- PTPRH
- Gene Name
- protein tyrosine phosphatase, receptor type H
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001161440.2 |
3270 |
Missense Mutation |
CCG,CGG |
P881R |
NP_001154912.2 |
| NM_002842.4 |
3270 |
Missense Mutation |
CCG,CGG |
P1059R |
NP_002833.4 |
| XM_011527183.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1066R |
XP_011525485.1 |
| XM_011527188.1 |
3270 |
Missense Mutation |
CCG,CGG |
P872R |
XP_011525490.1 |
| XM_011527190.1 |
3270 |
Intron |
|
|
XP_011525492.1 |
| XM_017027056.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1081R |
XP_016882545.1 |
| XM_017027057.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1077R |
XP_016882546.1 |
| XM_017027058.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1074R |
XP_016882547.1 |
| XM_017027059.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1081R |
XP_016882548.1 |
| XM_017027060.1 |
3270 |
Missense Mutation |
CCG,CGG |
P1065R |
XP_016882549.1 |
| XM_017027061.1 |
3270 |
Missense Mutation |
CCG,CGG |
P903R |
XP_016882550.1 |
| XM_017027062.1 |
3270 |
Missense Mutation |
CCG,CGG |
P872R |
XP_016882551.1 |
| XM_017027063.1 |
3270 |
Missense Mutation |
CCG,CGG |
P872R |
XP_016882552.1 |
| XM_017027064.1 |
3270 |
Intron |
|
|
XP_016882553.1 |
- Gene
- SYT5
- Gene Name
- synaptotagmin 5
There are no transcripts associated with this gene.
View Full Product Details