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Search Thermo Fisher Scientific
CATATGCTGCACTGGAAAGGTCCAC[C/T]GTCACCATGGCAACTCATATGCAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604386 | ||||||||||||||||||||
Literature Links: |
TRPS1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TRPS1 - transcriptional repressor GATA binding 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282902.2 | 4177 | Missense Mutation | AGT,GGT | S,G 1244 | NP_001269831.1 | |
NM_001282903.2 | 4177 | Missense Mutation | AGT,GGT | S,G 1246 | NP_001269832.1 | |
NM_014112.4 | 4177 | Missense Mutation | AGT,GGT | S,G 1253 | NP_054831.2 | |
XM_005251049.2 | 4177 | Missense Mutation | AGT,GGT | S,G 1240 | XP_005251106.1 | |
XM_006716625.1 | 4177 | Missense Mutation | AGT,GGT | S,G 1253 | XP_006716688.1 | |
XM_011517264.1 | 4177 | Missense Mutation | AGT,GGT | S,G 1253 | XP_011515566.1 | |
XM_011517266.2 | 4177 | Missense Mutation | AGT,GGT | S,G 1253 | XP_011515568.1 | |
XM_011517267.1 | 4177 | Missense Mutation | AGT,GGT | S,G 1246 | XP_011515569.1 | |
XM_011517268.1 | 4177 | Missense Mutation | AGT,GGT | S,G 1240 | XP_011515570.1 | |
XM_017013801.1 | 4177 | Missense Mutation | AGT,GGT | S,G 1276 | XP_016869290.1 |