Product Details

SNP ID
rs142523771
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127942049 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCAATTTGGACACTTTTTTGACA[A/G]TCCCGTTCTTGTTAAGCAGCTTCAG
Phenotype
MIM: 609697
Polymorphism
A/G, Transition 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 3212 Missense Mutation ACT,ATT T1070I NP_001139400.1
NM_024545.3 3212 Missense Mutation ACT,ATT T1035I NP_078821.2
XM_005263767.3 3212 Missense Mutation ACT,ATT T1069I XP_005263824.1
XM_005263768.3 3212 Missense Mutation ACT,ATT T1044I XP_005263825.1
XM_005263769.3 3212 Missense Mutation ACT,ATT T1044I XP_005263826.1
XM_005263770.3 3212 Missense Mutation ACT,ATT T1043I XP_005263827.1
XM_006712748.3 3212 Missense Mutation ACT,ATT T1069I XP_006712811.1
XM_006712749.3 3212 Missense Mutation ACT,ATT T1034I XP_006712812.1
XM_017004903.1 3212 Missense Mutation ACT,ATT T1043I XP_016860392.1
XM_017004904.1 3212 Missense Mutation ACT,ATT T1009I XP_016860393.1
XM_017004905.1 3212 Missense Mutation ACT,ATT T1008I XP_016860394.1

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