Product Details

SNP ID
rs587778806
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:155803581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGGTCCAGGAAAGTGAGGAAGTC[G/T]CTGTAGAGCAGCCGGCCCTGGTCGT
Phenotype
MIM: 600725
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SHH PubMed Links

Gene Details

Gene
SHH
Gene Name
sonic hedgehog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000193.3 3657 Missense Mutation AGA,AGC R236S NP_000184.1
NM_001310462.1 3657 Intron NP_001297391.1
XM_011516479.2 3657 Missense Mutation AGA,AGC R149S XP_011514781.1
XM_011516480.2 3657 Missense Mutation AGA,AGC R149S XP_011514782.1

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