Product Details

SNP ID

rs148921856

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:127945522 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGAGCACGACAGGATACTCCTTT[C/T]TGATTAGCTATTTCCTGCAGCATAG

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	2916	Silent Mutation	CAA,CAG	Q971Q	NP_001139400.1
NM_024545.3	2916	Silent Mutation	CAA,CAG	Q936Q	NP_078821.2
XM_005263767.3	2916	Silent Mutation	CAA,CAG	Q970Q	XP_005263824.1
XM_005263768.3	2916	Silent Mutation	CAA,CAG	Q945Q	XP_005263825.1
XM_005263769.3	2916	Silent Mutation	CAA,CAG	Q945Q	XP_005263826.1
XM_005263770.3	2916	Silent Mutation	CAA,CAG	Q944Q	XP_005263827.1
XM_006712748.3	2916	Silent Mutation	CAA,CAG	Q970Q	XP_006712811.1
XM_006712749.3	2916	Silent Mutation	CAA,CAG	Q935Q	XP_006712812.1
XM_017004903.1	2916	Silent Mutation	CAA,CAG	Q944Q	XP_016860392.1
XM_017004904.1	2916	Silent Mutation	CAA,CAG	Q910Q	XP_016860393.1
XM_017004905.1	2916	Silent Mutation	CAA,CAG	Q909Q	XP_016860394.1

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