Product Details

SNP ID

rs200735877

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177135245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGAGCCACTTAATGGGTGTACT[A/G]TGCAGTTATCGACTGTCAGTGGAAC

Phenotype

MIM: 606681

Polymorphism

A/G, 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	280	Missense Mutation	ATG,GTG	M48V	NP_071900.2
NM_172349.2	280	Intron			NP_758859.1

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