Product Details
- SNP ID
-
rs200015572
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:29511295 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCACACATTGACTTCGCCCTCCATG[C/G]CCTGTGTGATAGGAAAGCCAGCATC
- Phenotype
-
MIM: 612733
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
THOC5
PubMed Links
Gene Details
- Gene
- THOC5
- Gene Name
- THO complex 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001002877.1 |
1993 |
Missense Mutation |
GCC,GGC |
A600G |
NP_001002877.1 |
NM_001002878.1 |
1993 |
Missense Mutation |
GCC,GGC |
A600G |
NP_001002878.1 |
NM_001002879.1 |
1993 |
Missense Mutation |
GCC,GGC |
A600G |
NP_001002879.1 |
NM_003678.4 |
1993 |
Missense Mutation |
GCC,GGC |
A600G |
NP_003669.4 |
XM_005261797.1 |
1993 |
Missense Mutation |
GCC,GGC |
A611G |
XP_005261854.1 |
XM_005261798.1 |
1993 |
Missense Mutation |
GCC,GGC |
A611G |
XP_005261855.1 |
XM_005261799.1 |
1993 |
Missense Mutation |
GCC,GGC |
A611G |
XP_005261856.1 |
XM_005261801.3 |
1993 |
Missense Mutation |
GCC,GGC |
A261G |
XP_005261858.1 |
XM_006724347.1 |
1993 |
Missense Mutation |
GCC,GGC |
A611G |
XP_006724410.1 |
XM_017029027.1 |
1993 |
Missense Mutation |
GCC,GGC |
A611G |
XP_016884516.1 |
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