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CCAGTGCTGTTTGCATTGTTCCCAG[C/T]GCTGCTGTTGGAAGTGCTGCTGGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603450 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LDB2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
LDB2 - LIM domain binding 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130834.2 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | NP_001124306.1 | |
NM_001290.4 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | NP_001281.1 | |
NM_001304434.1 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | NP_001291363.1 | |
NM_001304435.1 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | NP_001291364.1 | |
XM_005248197.3 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_005248254.1 | |
XM_005248201.2 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_005248258.1 | |
XM_005248202.2 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | XP_005248259.1 | |
XM_006713975.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714038.1 | |
XM_006713976.3 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_006714039.1 | |
XM_006713977.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714040.1 | |
XM_006713978.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714041.1 | |
XM_006713979.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714042.1 | |
XM_006713980.3 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_006714043.1 | |
XM_006713981.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714044.1 | |
XM_006713982.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714045.1 | |
XM_006713983.3 | 1168 | Missense Mutation | ACT,GCT | T,A 310 | XP_006714046.1 | |
XM_011513905.2 | 1168 | Missense Mutation | ACT,GCT | T,A 197 | XP_011512207.1 | |
XM_017008812.1 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_016864301.1 | |
XM_017008813.1 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_016864302.1 | |
XM_017008814.1 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_016864303.1 | |
XM_017008815.1 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_016864304.1 | |
XM_017008816.1 | 1168 | Missense Mutation | ACT,GCT | T,A 309 | XP_016864305.1 | |
XM_017008817.1 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_016864306.1 | |
XM_017008818.1 | 1168 | Missense Mutation | ACT,GCT | T,A 229 | XP_016864307.1 | |
XM_017008819.1 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_016864308.1 | |
XM_017008820.1 | 1168 | Missense Mutation | ACT,GCT | T,A 272 | XP_016864309.1 | |
XM_017008821.1 | 1168 | Missense Mutation | ACT,GCT | T,A 271 | XP_016864310.1 | |
XM_017008822.1 | 1168 | Missense Mutation | ACT,GCT | T,A 148 | XP_016864311.1 |