Product Details

SNP ID
rs1048132
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:62841088 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCCCAATAAAATGATATATTAAA[C/T]CTTCAGATTAATGACTGGCTACAGA
Phenotype
MIM: 120270 MIM: 604745
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL9A3 PubMed Links

Gene Details

Gene
COL9A3
Gene Name
collagen type IX alpha 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001853.3 2414 UTR 3 NP_001844.3
XM_011528545.1 2414 Intron XP_011526847.1
XM_017027666.1 2414 Intron XP_016883155.1
Gene
DPH3P1
Gene Name
diphthamide biosynthesis 3 pseudogene 1
There are no transcripts associated with this gene.

Gene
TCFL5
Gene Name
transcription factor like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301726.1 2414 Intron NP_001288655.1
NM_006602.3 2414 UTR 3 NP_006593.2
XM_005260185.3 2414 Intron XP_005260242.1
XM_011528497.2 2414 Intron XP_011526799.1
XM_011528498.2 2414 Intron XP_011526800.1
XM_011528499.1 2414 Intron XP_011526801.1

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