Product Details

SNP ID
rs148626887
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:32029730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCATTAATCTTCTCATTTTCTA[C/T]TATTCTCTAGTGAATTCAAAAAAAC
Phenotype
MIM: 612032
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DPY30 PubMed Links

Gene Details

Gene
DPY30
Gene Name
dpy-30, histone methyltransferase complex regulatory subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321209.1 235 Missense Mutation ATA,GTA I31V NP_001308138.1
NM_001321210.1 235 Missense Mutation ATA,GTA I31V NP_001308139.1
NM_032574.3 235 Missense Mutation ATA,GTA I31V NP_115963.1
XM_006712117.3 235 Missense Mutation ATA,GTA I31V XP_006712180.1
XM_006712118.3 235 Intron XP_006712181.1
XM_011533133.2 235 Missense Mutation ATA,GTA I31V XP_011531435.1
XM_017005111.1 235 Missense Mutation ATA,GTA I31V XP_016860600.1

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