Product Details

SNP ID

rs140784554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:127942129 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATGGAGTCTCTGGCTTCACTGAT[C/T]TGATCCATCACAAGTTTACACCTCT

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	3132	Silent Mutation	CAA,CAG	Q1043Q	NP_001139400.1
NM_024545.3	3132	Silent Mutation	CAA,CAG	Q1008Q	NP_078821.2
XM_005263767.3	3132	Silent Mutation	CAA,CAG	Q1042Q	XP_005263824.1
XM_005263768.3	3132	Silent Mutation	CAA,CAG	Q1017Q	XP_005263825.1
XM_005263769.3	3132	Silent Mutation	CAA,CAG	Q1017Q	XP_005263826.1
XM_005263770.3	3132	Silent Mutation	CAA,CAG	Q1016Q	XP_005263827.1
XM_006712748.3	3132	Silent Mutation	CAA,CAG	Q1042Q	XP_006712811.1
XM_006712749.3	3132	Silent Mutation	CAA,CAG	Q1007Q	XP_006712812.1
XM_017004903.1	3132	Silent Mutation	CAA,CAG	Q1016Q	XP_016860392.1
XM_017004904.1	3132	Silent Mutation	CAA,CAG	Q982Q	XP_016860393.1
XM_017004905.1	3132	Silent Mutation	CAA,CAG	Q981Q	XP_016860394.1

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