Product Details

SNP ID
rs142274288
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:30578850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAGAACTCACCTCTCGGATTTTT[C/T]GCCTCTTGCCAAACATGATCTTCTG
Phenotype
MIM: 602300 MIM: 605819
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GAL3ST1 PubMed Links

Gene Details

Gene
GAL3ST1
Gene Name
galactose-3-O-sulfotransferase 1
There are no transcripts associated with this gene.

Gene
PES1
Gene Name
pescadillo ribosomal biogenesis factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243225.1 2222 Intron NP_001230154.1
NM_001282327.1 2222 Missense Mutation CAA,CGA Q418R NP_001269256.1
NM_001282328.1 2222 Missense Mutation CAA,CGA Q418R NP_001269257.1
NM_014303.3 2222 Intron NP_055118.1
XM_006724173.1 2222 Missense Mutation CAA,CGA Q556R XP_006724236.1
XM_017028678.1 2222 Missense Mutation CAA,CGA Q418R XP_016884167.1

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