Product Details

SNP ID

rs142375705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:65356770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTCCTCTCCAAAGTGTTGTCGG[C/T]GCTGCGGGTGCCCTCCCTCCGCTTC

Phenotype

MIM: 602625

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAGI1 PubMed Links

Gene Details

Gene

MAGI1

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033057.1	4704	Missense Mutation	ACC,GCC	T1333A	NP_001028229.1
NM_004742.2	4704	Intron			NP_004733.2
NM_015520.1	4704	UTR 3			NP_056335.1
XM_005265563.1	4704	Missense Mutation	ACC,GCC	T1363A	XP_005265620.1
XM_005265564.1	4704	Missense Mutation	ACC,GCC	T1362A	XP_005265621.1
XM_005265565.1	4704	Missense Mutation	ACC,GCC	T1352A	XP_005265622.1
XM_005265566.1	4704	Missense Mutation	ACC,GCC	T1350A	XP_005265623.1
XM_005265568.1	4704	Missense Mutation	ACC,GCC	T1349A	XP_005265625.1
XM_005265570.1	4704	Missense Mutation	ACC,GCC	T1296A	XP_005265627.1
XM_005265571.1	4704	Missense Mutation	ACC,GCC	T1266A	XP_005265628.1
XM_005265574.3	4704	UTR 3			XP_005265631.1
XM_006713407.1	4704	Missense Mutation	ACC,GCC	T1364A	XP_006713470.1
XM_006713408.1	4704	Missense Mutation	ACC,GCC	T1363A	XP_006713471.1
XM_006713409.1	4704	Missense Mutation	ACC,GCC	T1363A	XP_006713472.1
XM_006713410.1	4704	Missense Mutation	ACC,GCC	T1350A	XP_006713473.1
XM_006713411.1	4704	Missense Mutation	ACC,GCC	T1336A	XP_006713474.1
XM_006713412.1	4704	Missense Mutation	ACC,GCC	T1334A	XP_006713475.1
XM_006713414.3	4704	UTR 3			XP_006713477.1
XM_011534236.1	4704	Missense Mutation	ACC,GCC	T1351A	XP_011532538.1
XM_011534240.2	4704	Missense Mutation	ACC,GCC	T645A	XP_011532542.1
XM_011534241.2	4704	Missense Mutation	ACC,GCC	T617A	XP_011532543.1
XM_017007497.1	4704	Missense Mutation	ACC,GCC	T1362A	XP_016862986.1
XM_017007498.1	4704	Missense Mutation	ACC,GCC	T1361A	XP_016862987.1
XM_017007499.1	4704	Missense Mutation	ACC,GCC	T1329A	XP_016862988.1
XM_017007500.1	4704	Missense Mutation	ACC,GCC	T1326A	XP_016862989.1
XM_017007501.1	4704	Missense Mutation	ACC,GCC	T1323A	XP_016862990.1
XM_017007502.1	4704	UTR 3			XP_016862991.1
XM_017007503.1	4704	UTR 3			XP_016862992.1
XM_017007504.1	4704	UTR 3			XP_016862993.1
XM_017007505.1	4704	UTR 3			XP_016862994.1
XM_017007506.1	4704	UTR 3			XP_016862995.1
XM_017007507.1	4704	Missense Mutation	ACC,GCC	T1095A	XP_016862996.1
XM_017007508.1	4704	Missense Mutation	ACC,GCC	T1039A	XP_016862997.1

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