Product Details
- SNP ID
-
rs1045117
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:123621327 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTTTCTTGAGTTGATTTTGATTCT[A/G]CGTTGGGGACAGTGGTCTTAAATTT
- Phenotype
-
MIM: 300395
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
THOC2
PubMed Links
Gene Details
- Gene
- THOC2
- Gene Name
- THO complex 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001081550.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1349V |
NP_001075019.1 |
XM_005262450.3 |
4294 |
Missense Mutation |
GCA,GTA |
A1349V |
XP_005262507.1 |
XM_017029662.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885151.1 |
XM_017029663.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885152.1 |
XM_017029664.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885153.1 |
XM_017029665.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885154.1 |
XM_017029666.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1417V |
XP_016885155.1 |
XM_017029667.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885156.1 |
XM_017029668.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885157.1 |
XM_017029669.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1399V |
XP_016885158.1 |
XM_017029670.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1395V |
XP_016885159.1 |
XM_017029671.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1399V |
XP_016885160.1 |
XM_017029672.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1421V |
XP_016885161.1 |
XM_017029673.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1375V |
XP_016885162.1 |
XM_017029674.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1371V |
XP_016885163.1 |
XM_017029675.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1399V |
XP_016885164.1 |
XM_017029676.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1399V |
XP_016885165.1 |
XM_017029677.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1353V |
XP_016885166.1 |
XM_017029678.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1349V |
XP_016885167.1 |
XM_017029679.1 |
4294 |
Missense Mutation |
GCA,GTA |
A1353V |
XP_016885168.1 |
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