Product Details

SNP ID

rs12631343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:197051652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTTTCTGGCTTGTTCTTCTGTTA[C/G]ACGCTTATTCATTTCCCTACGAAAA

Phenotype

MIM: 601014

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DLG1 PubMed Links

Gene Details

Gene

DLG1

Gene Name

discs large MAGUK scaffold protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098424.1	2676	Missense Mutation	CTA,GTA	L845V	NP_001091894.1
NM_001204386.1	2676	Missense Mutation	CTA,GTA	L833V	NP_001191315.1
NM_001204387.1	2676	Missense Mutation	CTA,GTA	L741V	NP_001191316.1
NM_001204388.1	2676	Missense Mutation	CTA,GTA	L729V	NP_001191317.1
NM_001290983.1	2676	Missense Mutation	CTA,GTA	L845V	NP_001277912.1
NM_004087.2	2676	Missense Mutation	CTA,GTA	L867V	NP_004078.2
XM_005269289.3	2676	Missense Mutation	CTA,GTA	L867V	XP_005269346.1
XM_011512502.2	2676	Missense Mutation	CTA,GTA	L845V	XP_011510804.1
XM_011512503.1	2676	Missense Mutation	CTA,GTA	L833V	XP_011510805.1
XM_011512505.1	2676	Missense Mutation	CTA,GTA	L812V	XP_011510807.1
XM_011512506.1	2676	Missense Mutation	CTA,GTA	L794V	XP_011510808.1
XM_011512509.1	2676	Intron			XP_011510811.1
XM_017005800.1	2676	Missense Mutation	CTA,GTA	L867V	XP_016861289.1
XM_017005801.1	2676	Missense Mutation	CTA,GTA	L867V	XP_016861290.1
XM_017005802.1	2676	Missense Mutation	CTA,GTA	L867V	XP_016861291.1
XM_017005803.1	2676	Missense Mutation	CTA,GTA	L867V	XP_016861292.1
XM_017005804.1	2676	Missense Mutation	CTA,GTA	L866V	XP_016861293.1
XM_017005805.1	2676	Missense Mutation	CTA,GTA	L845V	XP_016861294.1
XM_017005806.1	2676	Missense Mutation	CTA,GTA	L834V	XP_016861295.1
XM_017005807.1	2676	Missense Mutation	CTA,GTA	L834V	XP_016861296.1
XM_017005808.1	2676	Missense Mutation	CTA,GTA	L834V	XP_016861297.1
XM_017005809.1	2676	Missense Mutation	CTA,GTA	L834V	XP_016861298.1
XM_017005810.1	2676	Missense Mutation	CTA,GTA	L833V	XP_016861299.1
XM_017005811.1	2676	Missense Mutation	CTA,GTA	L816V	XP_016861300.1
XM_017005812.1	2676	Missense Mutation	CTA,GTA	L816V	XP_016861301.1
XM_017005813.1	2676	Missense Mutation	CTA,GTA	L816V	XP_016861302.1
XM_017005814.1	2676	Missense Mutation	CTA,GTA	L816V	XP_016861303.1
XM_017005815.1	2676	Missense Mutation	CTA,GTA	L815V	XP_016861304.1
XM_017005816.1	2676	Missense Mutation	CTA,GTA	L812V	XP_016861305.1
XM_017005817.1	2676	Missense Mutation	CTA,GTA	L812V	XP_016861306.1
XM_017005818.1	2676	Missense Mutation	CTA,GTA	L812V	XP_016861307.1
XM_017005819.1	2676	Missense Mutation	CTA,GTA	L812V	XP_016861308.1
XM_017005820.1	2676	Missense Mutation	CTA,GTA	L794V	XP_016861309.1
XM_017005821.1	2676	Missense Mutation	CTA,GTA	L784V	XP_016861310.1
XM_017005822.1	2676	Missense Mutation	CTA,GTA	L762V	XP_016861311.1
XM_017005823.1	2676	Missense Mutation	CTA,GTA	L751V	XP_016861312.1
XM_017005824.1	2676	Missense Mutation	CTA,GTA	L460V	XP_016861313.1

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