Product Details

SNP ID
rs4930294
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:65538847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCACGATCTGATTTATCAGTTT[C/G]TAGGAAACACCCTCTGGGAGGAAGG
Phenotype
MIM: 602090 MIM: 607982
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
LTBP3 PubMed Links

Gene Details

Gene
LTBP3
Gene Name
latent transforming growth factor beta binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130144.2 4596 UTR 3 NP_001123616.1
NM_001164266.1 4596 UTR 3 NP_001157738.1
NM_021070.4 4596 UTR 3 NP_066548.2
XM_011545032.2 4596 UTR 3 XP_011543334.1
XM_011545033.2 4596 UTR 3 XP_011543335.1
XM_017017737.1 4596 Intron XP_016873226.1
Gene
SCYL1
Gene Name
SCY1 like pseudokinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048218.1 4596 Intron NP_001041683.1
NM_020680.3 4596 Intron NP_065731.3
XM_005274118.3 4596 Intron XP_005274175.1
XM_005274120.3 4596 Intron XP_005274177.1
XM_005274121.3 4596 Intron XP_005274178.1
XM_017018029.1 4596 Intron XP_016873518.1
XM_017018030.1 4596 Intron XP_016873519.1
XM_017018031.1 4596 Intron XP_016873520.1
XM_017018032.1 4596 Intron XP_016873521.1
XM_017018033.1 4596 Intron XP_016873522.1

View Full Product Details