Product Details

SNP ID

rs200857735

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7193700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGTCACTGTCTCGTAGCTCAGAA[C/T]CGAGTCTTCTCGACCTGGTGGGAGG

Phenotype

MIM: 602887

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DLG4 PubMed Links

Gene Details

Gene

DLG4

Gene Name

discs large MAGUK scaffold protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128827.2	1685	Missense Mutation	ATT,GTT	I517V	NP_001122299.1
NM_001321074.1	1685	Missense Mutation	ATT,GTT	I560V	NP_001308003.1
NM_001321075.1	1685	Missense Mutation	ATT,GTT	I520V	NP_001308004.1
NM_001321076.1	1685	Missense Mutation	ATT,GTT	I460V	NP_001308005.1
NM_001321077.1	1685	Missense Mutation	ATT,GTT	I460V	NP_001308006.1
NM_001365.4	1685	Missense Mutation	ATT,GTT	I563V	NP_001356.1
XM_005256491.1	1685	Missense Mutation	ATT,GTT	I550V	XP_005256548.1
XM_011523698.1	1685	Missense Mutation	ATT,GTT	I593V	XP_011522000.1
XM_011523699.2	1685	Missense Mutation	ATT,GTT	I593V	XP_011522001.1
XM_011523702.1	1685	Missense Mutation	ATT,GTT	I460V	XP_011522004.1
XM_017024288.1	1685	Missense Mutation	ATT,GTT	I498V	XP_016879777.1
XM_017024289.1	1685	Missense Mutation	ATT,GTT	I495V	XP_016879778.1
XM_017024290.1	1685	Missense Mutation	ATT,GTT	I493V	XP_016879779.1

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