Product Details

SNP ID

rs2229826

Assay Type

Functionally tested

NCBI dbSNP Submissions

23

Location

Chr.1:40301251 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATAGGCCGAAGCTCCAAGGCAGGC[A/G]GCAGGTTCACAGAAGCCCGGCAGCC

Phenotype

MIM: 120260 MIM: 606480

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL9A2 PubMed Links

Gene Details

Gene

COL9A2

Gene Name

collagen type IX alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001852.3	2139	Silent Mutation	GCC,GCT	A667A	NP_001843.1
XM_006710365.3	2139	Silent Mutation	GCC,GCT	A667A	XP_006710428.1
XM_011540715.2	2139	Silent Mutation	GCC,GCT	A577A	XP_011539017.1
XM_011540716.2	2139	Silent Mutation	GCC,GCT	A577A	XP_011539018.1
XM_011540717.2	2139	Silent Mutation	GCC,GCT	A486A	XP_011539019.1
XM_017000332.1	2139	Silent Mutation	GCC,GCT	A671A	XP_016855821.1
XM_017000333.1	2139	Silent Mutation	GCC,GCT	A573A	XP_016855822.1

Gene

ZMPSTE24

Gene Name

zinc metallopeptidase STE24

There are no transcripts associated with this gene.

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