Product Details

SNP ID
rs200140594
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158098221 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATGTAGGGCGCGTGCGCGGCCA[C/G]GTGCGGATGCAGGTGGTGGTGCGCG
Phenotype
MIM: 602504
Polymorphism
C/G, Transversion 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_001163678.1 623 Silent Mutation CTG,GTG L256V NP_001157150.1
NM_003030.4 623 Silent Mutation CTG,GTG L292V NP_003021.3
NM_006884.3 623 Silent Mutation CTG,GTG L268V NP_006875.2
XM_006713727.3 623 Missense Mutation CTG,GTG L280V XP_006713790.1
XM_006713728.3 623 Silent Mutation CTG,GTG L127V XP_006713791.1
XM_017007053.1 623 Silent Mutation CTG,GTG L141V XP_016862542.1
XM_017007054.1 623 Silent Mutation CTG,GTG L141V XP_016862543.1
XM_017007055.1 623 Silent Mutation CTG,GTG L127V XP_016862544.1

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