Product Details

SNP ID

hCV2257352

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:155802982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGCCTATTTGGTAGAGCAGCTGC[A/G]AGTACCAGTGGATGCCCGCGGTGGC

Phenotype

MIM: 600725

Polymorphism

A/G, 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	1458	Missense Mutation	TCG,TTG	S436L	NP_000184.1
NM_001310462.1	1458	Intron			NP_001297391.1

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