Product Details

SNP ID

rs77700347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177135616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTAGATTCTGAAATGGACCCAGA[A/C]CAGCCAGTCACAGAGGATGAGAGTA

Phenotype

MIM: 606681

Polymorphism

A/C, Transversion 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	651	Missense Mutation	GAA,GAC	E171D	NP_071900.2
NM_172349.2	651	Intron			NP_758859.1

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