Product Details

SNP ID

rs9333635

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:155803392 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGGCGAACAGCGCCCGAGGCCC[C/G]AGTGCGCCCCCGGAAGGCGGCCCCG

Phenotype

MIM: 600725

Polymorphism

C/G, 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	3846	Silent Mutation	CTC,CTG	L299L	NP_000184.1
NM_001310462.1	3846	Intron			NP_001297391.1
XM_011516479.2	3846	Silent Mutation	CTC,CTG	L212L	XP_011514781.1
XM_011516480.2	3846	Silent Mutation	CTC,CTG	L212L	XP_011514782.1

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