Product Details

SNP ID
rs104894052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:155803294 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTCGCTTAGGGTCACGCTGTGC[G/A]CAGCGGCGGGCAGGAGCCGGCGGTC
Phenotype
MIM: 600725
Polymorphism
G/A, Transition 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 3944 Missense Mutation GCG,GTG A332V NP_000184.1
NM_001310462.1 3944 Intron NP_001297391.1
XM_011516479.2 3944 Missense Mutation GCG,GTG A245V XP_011514781.1
XM_011516480.2 3944 Missense Mutation GCG,GTG A245V XP_011514782.1

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