Product Details

SNP ID: rs117974409
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:62846586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACGTCCCAAAGCAGATACTCATGTT[A/G]GATTTGTGAACATGAGAAGAATAAC
Phenotype: MIM: 120270 MIM: 604745
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: COL9A3 PubMed Links

Gene Details

Gene: COL9A3
Gene Name: collagen type IX alpha 3

There are no transcripts associated with this gene.

Gene: DPH3P1
Gene Name: diphthamide biosynthesis 3 pseudogene 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080750.4		Intron			NP_542788.1

Gene: TCFL5
Gene Name: transcription factor like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301726.1		Intron			NP_001288655.1
NM_006602.3		Intron			NP_006593.2
XM_005260185.3		Intron			XP_005260242.1
XM_011528497.2		Intron			XP_011526799.1
XM_011528498.2		Intron			XP_011526800.1
XM_011528499.1		Intron			XP_011526801.1

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