Product Details

SNP ID
rs199574320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5587716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACCTTACCCCGCCACTCCACCG[C/T]GGCTTGCCATGTGCCCCGGCCCCGA
Phenotype
MIM: 608066
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SAFB2 PubMed Links

Gene Details

Gene
SAFB2
Gene Name
scaffold attachment factor B2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014649.2 2252 Missense Mutation CAC,CGC H897R NP_055464.1
XM_011528449.2 2252 Missense Mutation CAC,CGC H897R XP_011526751.1
XM_011528450.2 2252 Missense Mutation CAC,CGC H443R XP_011526752.1
XM_017027520.1 2252 Missense Mutation CAC,CGC H443R XP_016883009.1
XM_017027521.1 2252 Missense Mutation CAC,CGC H443R XP_016883010.1
XM_017027522.1 2252 Missense Mutation CAC,CGC H443R XP_016883011.1

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