Product Details

SNP ID
rs139394762
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158098241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCAGGTGCGGATGCAGGTGGTGG[C/T]GCGCGTGCGCCACAGCGCTGTCCAG
Phenotype
MIM: 602504
Polymorphism
C/T, 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_001163678.1 603 Missense Mutation CAC,CGC H249R NP_001157150.1
NM_003030.4 603 Missense Mutation CAC,CGC H285R NP_003021.3
NM_006884.3 603 Missense Mutation CAC,CGC H261R NP_006875.2
XM_006713727.3 603 Missense Mutation CAC,CGC H273R XP_006713790.1
XM_006713728.3 603 Missense Mutation CAC,CGC H120R XP_006713791.1
XM_017007053.1 603 Missense Mutation CAC,CGC H134R XP_016862542.1
XM_017007054.1 603 Missense Mutation CAC,CGC H134R XP_016862543.1
XM_017007055.1 603 Missense Mutation CAC,CGC H120R XP_016862544.1

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