Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCCGGCCGCGGCACGCAGCGGCCA[C/T]TCACGCAGCGACACTCGTCTGAATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602090 MIM: 607982 | ||||||||||||||||||||
Literature Links: |
LTBP3 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 |
LTBP3 - latent transforming growth factor beta binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130144.2 | 4125 | Missense Mutation | AAT,AGT | N,S 1225 | NP_001123616.1 | |
NM_001164266.1 | 4125 | Missense Mutation | AAT,AGT | N,S 1061 | NP_001157738.1 | |
NM_021070.4 | 4125 | Missense Mutation | AAT,AGT | N,S 1178 | NP_066548.2 | |
XM_011545032.2 | 4125 | Missense Mutation | AAT,AGT | N,S 1234 | XP_011543334.1 | |
XM_011545033.2 | 4125 | Missense Mutation | AAT,AGT | N,S 1187 | XP_011543335.1 | |
XM_017017737.1 | 4125 | Intron | XP_016873226.1 |
SCYL1 - SCY1 like pseudokinase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001048218.1 | 4125 | Intron | NP_001041683.1 | |||
NM_020680.3 | 4125 | Intron | NP_065731.3 | |||
XM_005274118.3 | 4125 | Intron | XP_005274175.1 | |||
XM_005274120.3 | 4125 | Intron | XP_005274177.1 | |||
XM_005274121.3 | 4125 | Intron | XP_005274178.1 | |||
XM_017018029.1 | 4125 | Intron | XP_016873518.1 | |||
XM_017018030.1 | 4125 | Intron | XP_016873519.1 | |||
XM_017018031.1 | 4125 | Intron | XP_016873520.1 | |||
XM_017018032.1 | 4125 | Intron | XP_016873521.1 | |||
XM_017018033.1 | 4125 | Intron | XP_016873522.1 |