Product Details

SNP ID: rs143959492
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219055392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AACTGAGCCAGGTGGTGGTCAGCCA[C/T]GGCCGCGAAGCAGGATGCCACCACA
Phenotype: MIM: 600726
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: IHH PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002181.3	1100	Missense Mutation	ATG,GTG	M351V	NP_002172.2

There are no transcripts associated with this gene.