Product Details
- SNP ID
-
rs73952515
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:108788965 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTTATTCAAGCACGTAAATGTGAAT[C/T]GGTAAAGTACCCTGAAACTTTACTG
- Phenotype
-
MIM: 601181
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CCDC138
PubMed Links
Gene Details
- Gene
- CCDC138
- Gene Name
- coiled-coil domain containing 138
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001303105.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
NP_001290034.1 |
NM_001303106.1 |
232 |
UTR 5 |
|
|
NP_001290035.1 |
NM_144978.2 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
NP_659415.1 |
XM_006712344.2 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_006712407.1 |
XM_006712345.3 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_006712408.1 |
XM_011510757.2 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_011509059.1 |
XM_011510758.2 |
232 |
Missense Mutation |
CGC,TGC |
R84C |
XP_011509060.1 |
XM_011510760.2 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_011509062.1 |
XM_011510761.2 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_011509063.1 |
XM_011510762.2 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_011509064.1 |
XM_017003492.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
XP_016858981.1 |
XM_017003493.1 |
232 |
Missense Mutation |
CGC,TGC |
R84C |
XP_016858982.1 |
XM_017003494.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
XP_016858983.1 |
XM_017003495.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
XP_016858984.1 |
XM_017003496.1 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_016858985.1 |
XM_017003497.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
XP_016858986.1 |
XM_017003498.1 |
232 |
Missense Mutation |
CGC,TGC |
R95C |
XP_016858987.1 |
XM_017003499.1 |
232 |
Missense Mutation |
CGC,TGC |
R89C |
XP_016858988.1 |
XM_017003500.1 |
232 |
Missense Mutation |
CGC,TGC |
R84C |
XP_016858989.1 |
XM_017003501.1 |
232 |
UTR 5 |
|
|
XP_016858990.1 |
XM_017003502.1 |
232 |
UTR 5 |
|
|
XP_016858991.1 |
XM_017003503.1 |
232 |
UTR 5 |
|
|
XP_016858992.1 |
XM_017003504.1 |
232 |
UTR 5 |
|
|
XP_016858993.1 |
- Gene
- RANBP2
- Gene Name
- RAN binding protein 2
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