Product Details

SNP ID
rs142487326
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158098204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGCGGTGCTGGGAACATCATGTA[A/G]GGCGCGTGCGCGGCCAGGTGCGGAT
Phenotype
MIM: 602504
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SHOX2 PubMed Links

Gene Details

Gene
SHOX2
Gene Name
short stature homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163678.1 640 Silent Mutation CCC,CCT P261P NP_001157150.1
NM_003030.4 640 Silent Mutation CCC,CCT P297P NP_003021.3
NM_006884.3 640 Silent Mutation CCC,CCT P273P NP_006875.2
XM_006713727.3 640 Silent Mutation CCC,CCT P285P XP_006713790.1
XM_006713728.3 640 Silent Mutation CCC,CCT P132P XP_006713791.1
XM_017007053.1 640 Silent Mutation CCC,CCT P146P XP_016862542.1
XM_017007054.1 640 Silent Mutation CCC,CCT P146P XP_016862543.1
XM_017007055.1 640 Silent Mutation CCC,CCT P132P XP_016862544.1

View Full Product Details