Product Details

SNP ID: rs137853021
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:44942443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGAGCGGCTGGGCCGCTTCCTCTG[G/T]TCGCTGCCCGTGGCCCCCGGGGCGT
Phenotype: MIM: 603714
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: SIX3 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005413.3	546	Missense Mutation	TGG,TGT	W113C	NP_005404.1

There are no transcripts associated with this gene.