Product Details

SNP ID
hCV2311560
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:72122742 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACTTCTGAACGAGAGCGAGAAGC[C/G]GCCCTTCGTGGAGGAGGCGGAGCGG
Phenotype
MIM: 608160
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
SOX9 PubMed Links

Gene Details

Gene
SOX9
Gene Name
SRY-box 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000346.3 827 Missense Mutation CCG,CGG P152R NP_000337.1
Gene
SOX9-AS1
Gene Name
SOX9 antisense RNA 1
There are no transcripts associated with this gene.

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