Product Details

SNP ID

rs4242182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:174729165 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCTCTCTCTGTTCTCTAGGACATA[C/T]GAGCCCTACCACCTGCACCCTGAGG

Phenotype

MIM: 123101

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MSX2 PubMed Links

Gene Details

Gene

MSX2

Gene Name

msh homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002449.4	474	Missense Mutation	ACG,ATG	T129M	NP_002440.2
XM_017009489.1	474	Intron			XP_016864978.1

View Full Product Details