Product Details

SNP ID

rs12503994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185590483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTGAGTAGATGTATTCTATGTGC[A/T]GTTATTACTGATTCCATTTCAAGCA

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		Intron			NP_001139142.1
NM_001145671.2		Intron			NP_001139143.1
NM_001145672.1		Intron			NP_001139144.1
NM_001145673.1		Intron			NP_001139145.1
NM_001145674.1		Intron			NP_001139146.1
NM_001145675.1		Intron			NP_001139147.1
NM_001270771.1		Intron			NP_001257700.1
NM_003603.6		Intron			NP_003594.3
NM_021069.4		Intron			NP_066547.1
XM_005263307.1		Intron			XP_005263364.1
XM_005263308.1		Intron			XP_005263365.1
XM_005263310.1		Intron			XP_005263367.1
XM_005263311.1		Intron			XP_005263368.1
XM_005263312.1		Intron			XP_005263369.1
XM_005263313.1		Intron			XP_005263370.1
XM_006714388.1		Intron			XP_006714451.1
XM_006714390.1		Intron			XP_006714453.1
XM_017008738.1		Intron			XP_016864227.1
XM_017008739.1		Intron			XP_016864228.1
XM_017008740.1		Intron			XP_016864229.1
XM_017008741.1		Intron			XP_016864230.1
XM_017008742.1		Intron			XP_016864231.1
XM_017008743.1		Intron			XP_016864232.1
XM_017008744.1		Intron			XP_016864233.1
XM_017008745.1		Intron			XP_016864234.1
XM_017008746.1		Intron			XP_016864235.1
XM_017008747.1		Intron			XP_016864236.1
XM_017008748.1		Intron			XP_016864237.1
XM_017008749.1		Intron			XP_016864238.1
XM_017008750.1		Intron			XP_016864239.1
XM_017008751.1		Intron			XP_016864240.1
XM_017008752.1		Intron			XP_016864241.1
XM_017008753.1		Intron			XP_016864242.1
XM_017008754.1		Intron			XP_016864243.1
XM_017008755.1		Intron			XP_016864244.1
XM_017008756.1		Intron			XP_016864245.1
XM_017008757.1		Intron			XP_016864246.1
XM_017008758.1		Intron			XP_016864247.1
XM_017008759.1		Intron			XP_016864248.1
XM_017008760.1		Intron			XP_016864249.1
XM_017008761.1		Intron			XP_016864250.1
XM_017008762.1		Intron			XP_016864251.1
XM_017008763.1		Intron			XP_016864252.1
XM_017008764.1		Intron			XP_016864253.1
XM_017008765.1		Intron			XP_016864254.1
XM_017008766.1		Intron			XP_016864255.1
XM_017008767.1		Intron			XP_016864256.1
XM_017008768.1		Intron			XP_016864257.1
XM_017008769.1		Intron			XP_016864258.1
XM_017008770.1		Intron			XP_016864259.1
XM_017008771.1		Intron			XP_016864260.1
XM_017008772.1		Intron			XP_016864261.1
XM_017008773.1		Intron			XP_016864262.1
XM_017008774.1		Intron			XP_016864263.1
XM_017008775.1		Intron			XP_016864264.1

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