Product Details

SNP ID
rs200617108
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5626451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCTGACGAAATTGAAATTACCT[C/G]CGAGGGAAACAAGAAAACATCAAAG
Phenotype
MIM: 602895 MIM: 608066
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SAFB PubMed Links

Gene Details

Gene
SAFB
Gene Name
scaffold attachment factor B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201338.1 407 Missense Mutation TCC,TGC S79C NP_001188267.1
NM_001201339.1 407 Missense Mutation TCC,TGC S79C NP_001188268.1
NM_001201340.1 407 Missense Mutation TCC,TGC S79C NP_001188269.1
NM_001320571.1 407 Missense Mutation CCG,GCG P13A NP_001307500.1
NM_001320572.1 407 Missense Mutation TCC,TGC S79C NP_001307501.1
NM_002967.3 407 Missense Mutation TCC,TGC S79C NP_002958.2
XM_017027114.1 407 Missense Mutation CCG,GCG P13A XP_016882603.1
XM_017027115.1 407 Missense Mutation CCG,GCG P13A XP_016882604.1
XM_017027116.1 407 UTR 5 XP_016882605.1
XM_017027117.1 407 UTR 5 XP_016882606.1
XM_017027118.1 407 UTR 5 XP_016882607.1
Gene
SAFB2
Gene Name
scaffold attachment factor B2
There are no transcripts associated with this gene.

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