Product Details

SNP ID

rs149334244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177135863 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCAGCAATGAAAAAGCAGCCCTT[C/T]TCCCAGCCCCCTTTTCACTAGGAGA

Phenotype

MIM: 606681

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NSD1 PubMed Links

Gene Details

Gene

NSD1

Gene Name

nuclear receptor binding SET domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022455.4	898	Missense Mutation	CTC,TTC	L254F	NP_071900.2
NM_172349.2	898	Intron			NP_758859.1

View Full Product Details