Product Details
- SNP ID
-
rs200069549
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:127738822 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGGACCTTGTCGAACTTCTCATAG[C/T]GCCGGGCCTGGCTGCTGCTGGCACC
- Phenotype
-
MIM: 604722
MIM: 608052
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SH2D3C
PubMed Links
Gene Details
- Gene
- SH2D3C
- Gene Name
- SH2 domain containing 3C
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001142531.1 |
2157 |
Missense Mutation |
CAC,CGC |
H482R |
NP_001136003.1 |
| NM_001142532.1 |
2157 |
Missense Mutation |
CAC,CGC |
H482R |
NP_001136004.1 |
| NM_001142533.1 |
2157 |
Missense Mutation |
CAC,CGC |
H678R |
NP_001136005.1 |
| NM_001142534.1 |
2157 |
Missense Mutation |
CAC,CGC |
H676R |
NP_001136006.1 |
| NM_001252334.1 |
2157 |
Missense Mutation |
CAC,CGC |
H768R |
NP_001239263.1 |
| NM_005489.3 |
2157 |
Missense Mutation |
CAC,CGC |
H679R |
NP_005480.2 |
| NM_170600.2 |
2157 |
Missense Mutation |
CAC,CGC |
H836R |
NP_733745.1 |
| XM_005251639.1 |
2157 |
Missense Mutation |
CAC,CGC |
H482R |
XP_005251696.1 |
| XM_011518114.1 |
2157 |
Missense Mutation |
CAC,CGC |
H780R |
XP_011516416.1 |
| XM_011518115.1 |
2157 |
Missense Mutation |
CAC,CGC |
H780R |
XP_011516417.1 |
| XM_011518117.2 |
2157 |
Missense Mutation |
CAC,CGC |
H482R |
XP_011516419.1 |
| XM_017014174.1 |
2157 |
Missense Mutation |
CAC,CGC |
H482R |
XP_016869663.1 |
- Gene
- TOR2A
- Gene Name
- torsin family 2 member A
There are no transcripts associated with this gene.
- Gene
- TTC16
- Gene Name
- tetratricopeptide repeat domain 16
There are no transcripts associated with this gene.
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