Product Details

SNP ID
rs147483814
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127941416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACACACGCAAGACAGACGATAT[A/T]ACAATTTCACTTGGGAATGGTTTTT
Phenotype
MIM: 609697
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
SAP130 PubMed Links

Gene Details

Gene
SAP130
Gene Name
Sin3A associated protein 130
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145928.1 3845 UTR 3 NP_001139400.1
NM_024545.3 3845 UTR 3 NP_078821.2
XM_005263767.3 3845 UTR 3 XP_005263824.1
XM_005263768.3 3845 UTR 3 XP_005263825.1
XM_005263769.3 3845 UTR 3 XP_005263826.1
XM_005263770.3 3845 UTR 3 XP_005263827.1
XM_006712748.3 3845 UTR 3 XP_006712811.1
XM_006712749.3 3845 UTR 3 XP_006712812.1
XM_017004903.1 3845 UTR 3 XP_016860392.1
XM_017004904.1 3845 UTR 3 XP_016860393.1
XM_017004905.1 3845 UTR 3 XP_016860394.1

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