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AGAATCTGGAACACAAATGGGAGAC[A/G]TAAAAGGTGAGTGCCTCTGAAACCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604710 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LTBP4 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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LTBP4 - latent transforming growth factor beta binding protein 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042544.1 | 288 | Intron | NP_001036009.1 | |||
NM_001042545.1 | 288 | Intron | NP_001036010.1 | |||
NM_003573.2 | 288 | Missense Mutation | ATA,GTA | I,V 4 | NP_003564.2 | |
XM_011527376.2 | 288 | Intron | XP_011525678.1 | |||
XM_011527377.2 | 288 | Intron | XP_011525679.1 | |||
XM_011527378.2 | 288 | Intron | XP_011525680.1 | |||
XM_011527379.1 | 288 | Intron | XP_011525681.1 | |||
XM_011527380.2 | 288 | Intron | XP_011525682.1 | |||
XM_011527381.2 | 288 | Intron | XP_011525683.1 | |||
XM_011527382.2 | 288 | Intron | XP_011525684.1 | |||
XM_011527383.2 | 288 | Intron | XP_011525685.1 | |||
XM_011527384.2 | 288 | Intron | XP_011525686.1 | |||
XM_011527385.2 | 288 | Intron | XP_011525687.1 | |||
XM_011527386.2 | 288 | Intron | XP_011525688.1 | |||
XM_011527387.1 | 288 | UTR 5 | XP_011525689.1 | |||
XM_017027352.1 | 288 | Intron | XP_016882841.1 | |||
XM_017027353.1 | 288 | Intron | XP_016882842.1 | |||
XM_017027354.1 | 288 | Intron | XP_016882843.1 |
SHKBP1 - SH3KBP1 binding protein 1 | ||||||
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There are no transcripts associated with this gene. |