Product Details

SNP ID
rs141779399
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158098162 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGAAGCCGAATCCGCGGCCAGCGT[A/G]GCGAGCGGCAGTCCGAAGGGCGGTG
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_001163678.1 682 Silent Mutation GCC,GCT A275A NP_001157150.1
NM_003030.4 682 Silent Mutation GCC,GCT A311A NP_003021.3
NM_006884.3 682 Silent Mutation GCC,GCT A287A NP_006875.2
XM_006713727.3 682 Silent Mutation GCC,GCT A299A XP_006713790.1
XM_006713728.3 682 Silent Mutation GCC,GCT A146A XP_006713791.1
XM_017007053.1 682 Silent Mutation GCC,GCT A160A XP_016862542.1
XM_017007054.1 682 Silent Mutation GCC,GCT A160A XP_016862543.1
XM_017007055.1 682 Silent Mutation GCC,GCT A146A XP_016862544.1

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