Product Details
- SNP ID
-
rs200917172
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:107714628 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCAGCTGCTCTGGGCTTGCCAGG[A/G]TCTTCAACAGGGTGTTCTCACGCTC
- Phenotype
-
MIM: 300506
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TSC22D3
PubMed Links
Gene Details
- Gene
- TSC22D3
- Gene Name
- TSC22 domain family member 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001015881.1 |
897 |
Missense Mutation |
ACC,ATC |
T42I |
NP_001015881.1 |
NM_001318468.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
NP_001305397.1 |
NM_001318470.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
NP_001305399.1 |
NM_004089.3 |
897 |
Missense Mutation |
ACC,ATC |
T99I |
NP_004080.2 |
NM_198057.2 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
NP_932174.1 |
XM_005262099.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_005262156.1 |
XM_005262100.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_005262157.1 |
XM_005262102.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_005262159.1 |
XM_005262103.3 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_005262160.1 |
XM_011530884.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_011529186.1 |
XM_017029335.1 |
897 |
Missense Mutation |
ACC,ATC |
T165I |
XP_016884824.1 |
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