Product Details

SNP ID
rs146737847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:60509783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCCGCGCACCATTTGGGACGGC[A/G]AACAGAAGACACACTGCTTCAAGGA
Phenotype
MIM: 606326
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SIX6 PubMed Links

Gene Details

Gene
SIX6
Gene Name
SIX homeobox 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007374.2 564 Missense Mutation AAA,GAA K129E NP_031400.2

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