Product Details

SNP ID

rs886041242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:72122729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCGCCCCGAGCAGACTTCTGAAC[G/T]AGAGCGAGAAGCGGCCCTTCGTGGA

Phenotype

MIM: 608160

Polymorphism

G/T, 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	814	Nonsense Mutation	GAG,TAG	E148*	NP_000337.1

Gene

SOX9-AS1

Gene Name

SOX9 antisense RNA 1

There are no transcripts associated with this gene.

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