Product Details

SNP ID
rs199661846
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177135156 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAATTGTCTGCTGCCCTTTTCCA[A/G]TCCAGTGAATTTAGATGCCCCTGAA
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_022455.4 191 Missense Mutation AAT,AGT N18S NP_071900.2
NM_172349.2 191 UTR 5 NP_758859.1

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