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TGGGGGCTTCCCCAACAGCAGGGGG[C/T]TTGTGTCCCAGAAGGAATTGCTCTC
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 4050 | Missense Mutation | AAC,AGC | N,S 1200 | NP_001123616.1 | |
NM_001164266.1 | 4050 | Missense Mutation | AAC,AGC | N,S 1036 | NP_001157738.1 | |
NM_021070.4 | 4050 | Missense Mutation | AAC,AGC | N,S 1153 | NP_066548.2 | |
XM_011545032.2 | 4050 | Missense Mutation | AAC,AGC | N,S 1209 | XP_011543334.1 | |
XM_011545033.2 | 4050 | Missense Mutation | AAC,AGC | N,S 1162 | XP_011543335.1 | |
XM_017017737.1 | 4050 | Intron | XP_016873226.1 |
SCYL1 - SCY1 like pseudokinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001048218.1 | 4050 | Intron | NP_001041683.1 | |||
NM_020680.3 | 4050 | Intron | NP_065731.3 | |||
XM_005274118.3 | 4050 | Intron | XP_005274175.1 | |||
XM_005274120.3 | 4050 | Intron | XP_005274177.1 | |||
XM_005274121.3 | 4050 | Intron | XP_005274178.1 | |||
XM_017018029.1 | 4050 | Intron | XP_016873518.1 | |||
XM_017018030.1 | 4050 | Intron | XP_016873519.1 | |||
XM_017018031.1 | 4050 | Intron | XP_016873520.1 | |||
XM_017018032.1 | 4050 | Intron | XP_016873521.1 | |||
XM_017018033.1 | 4050 | Intron | XP_016873522.1 |