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SNP ID: rs3664
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:62841034 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GTGAAAAATATTCAGTAACTTGTTT[A/G]CATAGCATTTGTGTAAAGACTATGA
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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001853.3	2360	UTR 3			NP_001844.3
XM_011528545.1	2360	Intron			XP_011526847.1
XM_017027666.1	2360	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	2360	Intron			NP_001288655.1
NM_006602.3	2360	UTR 3			NP_006593.2
XM_005260185.3	2360	Intron			XP_005260242.1
XM_011528497.2	2360	Intron			XP_011526799.1
XM_011528498.2	2360	Intron			XP_011526800.1
XM_011528499.1	2360	Intron			XP_011526801.1

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