Product Details

SNP ID
rs187976636
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:127942022 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTGGGTCTAGACTTTTTCCTTT[C/T]GCTTCAATTTGGACACTTTTTTGAC
Phenotype
MIM: 609697
Polymorphism
C/T, 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 3239 Missense Mutation CAA,CGA Q1079R NP_001139400.1
NM_024545.3 3239 Missense Mutation CAA,CGA Q1044R NP_078821.2
XM_005263767.3 3239 Missense Mutation CAA,CGA Q1078R XP_005263824.1
XM_005263768.3 3239 Missense Mutation CAA,CGA Q1053R XP_005263825.1
XM_005263769.3 3239 Missense Mutation CAA,CGA Q1053R XP_005263826.1
XM_005263770.3 3239 Missense Mutation CAA,CGA Q1052R XP_005263827.1
XM_006712748.3 3239 Missense Mutation CAA,CGA Q1078R XP_006712811.1
XM_006712749.3 3239 Missense Mutation CAA,CGA Q1043R XP_006712812.1
XM_017004903.1 3239 Missense Mutation CAA,CGA Q1052R XP_016860392.1
XM_017004904.1 3239 Missense Mutation CAA,CGA Q1018R XP_016860393.1
XM_017004905.1 3239 Missense Mutation CAA,CGA Q1017R XP_016860394.1

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