Product Details

SNP ID

rs183379234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185587686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAGAATTTGGTTCTTCTTGAGG[A/T]CCCTGAAAATAGAAGCGAGTCATGA

Phenotype

MIM: 616349

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SORBS2 PubMed Links

Gene Details

Gene

SORBS2

Gene Name

sorbin and SH3 domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145670.1	2946	Missense Mutation	ACC,TCC	T626S	NP_001139142.1
NM_001145671.2	2946	Missense Mutation	ACC,TCC	T713S	NP_001139143.1
NM_001145672.1	2946	Missense Mutation	ACC,TCC	T643S	NP_001139144.1
NM_001145673.1	2946	Missense Mutation	ACC,TCC	T806S	NP_001139145.1
NM_001145674.1	2946	Missense Mutation	ACC,TCC	T986S	NP_001139146.1
NM_001145675.1	2946	Missense Mutation	ACC,TCC	T474S	NP_001139147.1
NM_001270771.1	2946	Missense Mutation	ACC,TCC	T1182S	NP_001257700.1
NM_003603.6	2946	Missense Mutation	ACC,TCC	T648S	NP_003594.3
NM_021069.4	2946	Missense Mutation	ACC,TCC	T1082S	NP_066547.1
XM_005263307.1	2946	Missense Mutation	ACC,TCC	T941S	XP_005263364.1
XM_005263308.1	2946	Missense Mutation	ACC,TCC	T727S	XP_005263365.1
XM_005263310.1	2946	Missense Mutation	ACC,TCC	T679S	XP_005263367.1
XM_005263311.1	2946	Missense Mutation	ACC,TCC	T674S	XP_005263368.1
XM_005263312.1	2946	Missense Mutation	ACC,TCC	T673S	XP_005263369.1
XM_005263313.1	2946	Missense Mutation	ACC,TCC	T640S	XP_005263370.1
XM_006714388.1	2946	Missense Mutation	ACC,TCC	T704S	XP_006714451.1
XM_006714390.1	2946	Missense Mutation	ACC,TCC	T643S	XP_006714453.1
XM_017008738.1	2946	Intron			XP_016864227.1
XM_017008739.1	2946	Intron			XP_016864228.1
XM_017008740.1	2946	Intron			XP_016864229.1
XM_017008741.1	2946	Missense Mutation	ACC,TCC	T1382S	XP_016864230.1
XM_017008742.1	2946	Intron			XP_016864231.1
XM_017008743.1	2946	Intron			XP_016864232.1
XM_017008744.1	2946	Intron			XP_016864233.1
XM_017008745.1	2946	Intron			XP_016864234.1
XM_017008746.1	2946	Intron			XP_016864235.1
XM_017008747.1	2946	Intron			XP_016864236.1
XM_017008748.1	2946	Missense Mutation	ACC,TCC	T1282S	XP_016864237.1
XM_017008749.1	2946	Intron			XP_016864238.1
XM_017008750.1	2946	Missense Mutation	ACC,TCC	T1127S	XP_016864239.1
XM_017008751.1	2946	Missense Mutation	ACC,TCC	T1099S	XP_016864240.1
XM_017008752.1	2946	Missense Mutation	ACC,TCC	T1074S	XP_016864241.1
XM_017008753.1	2946	Missense Mutation	ACC,TCC	T1027S	XP_016864242.1
XM_017008754.1	2946	Missense Mutation	ACC,TCC	T1012S	XP_016864243.1
XM_017008755.1	2946	Missense Mutation	ACC,TCC	T856S	XP_016864244.1
XM_017008756.1	2946	Missense Mutation	ACC,TCC	T810S	XP_016864245.1
XM_017008757.1	2946	Missense Mutation	ACC,TCC	T786S	XP_016864246.1
XM_017008758.1	2946	Missense Mutation	ACC,TCC	T741S	XP_016864247.1
XM_017008759.1	2946	Missense Mutation	ACC,TCC	T734S	XP_016864248.1
XM_017008760.1	2946	Missense Mutation	ACC,TCC	T696S	XP_016864249.1
XM_017008761.1	2946	Intron			XP_016864250.1
XM_017008762.1	2946	Missense Mutation	ACC,TCC	T655S	XP_016864251.1
XM_017008763.1	2946	Missense Mutation	ACC,TCC	T641S	XP_016864252.1
XM_017008764.1	2946	Missense Mutation	ACC,TCC	T632S	XP_016864253.1
XM_017008765.1	2946	Missense Mutation	ACC,TCC	T632S	XP_016864254.1
XM_017008766.1	2946	Missense Mutation	ACC,TCC	T624S	XP_016864255.1
XM_017008767.1	2946	Missense Mutation	ACC,TCC	T624S	XP_016864256.1
XM_017008768.1	2946	Missense Mutation	ACC,TCC	T618S	XP_016864257.1
XM_017008769.1	2946	Missense Mutation	ACC,TCC	T617S	XP_016864258.1
XM_017008770.1	2946	Missense Mutation	ACC,TCC	T609S	XP_016864259.1
XM_017008771.1	2946	Missense Mutation	ACC,TCC	T627S	XP_016864260.1
XM_017008772.1	2946	Missense Mutation	ACC,TCC	T601S	XP_016864261.1
XM_017008773.1	2946	Missense Mutation	ACC,TCC	T601S	XP_016864262.1
XM_017008774.1	2946	Missense Mutation	ACC,TCC	T546S	XP_016864263.1
XM_017008775.1	2946	Missense Mutation	ACC,TCC	T1112S	XP_016864264.1

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