Product Details

SNP ID

rs144148304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:77792493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTATTTTGTTCTTGATTGACCA[C/T]TGCCAAGATCTGAGTGCAAATGCTT

Phenotype

MIM: 604090

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DLG5 PubMed Links

Gene Details

Gene

DLG5

Gene Name

discs large MAGUK scaffold protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004747.3	4720	Missense Mutation	ATG,GTG	M1903V	NP_004738.3
XM_005270276.4	4720	Missense Mutation	ATG,GTG	M1899V	XP_005270333.1
XM_006718056.3	4720	Missense Mutation	ATG,GTG	M1563V	XP_006718119.1
XM_006718057.3	4720	Intron			XP_006718120.1
XM_011540341.2	4720	Missense Mutation	ATG,GTG	M1844V	XP_011538643.1
XM_011540342.1	4720	Missense Mutation	ATG,GTG	M1813V	XP_011538644.1
XM_011540344.2	4720	Missense Mutation	ATG,GTG	M1791V	XP_011538646.1
XM_011540345.1	4720	Missense Mutation	ATG,GTG	M1748V	XP_011538647.1
XM_011540346.2	4720	Intron			XP_011538648.1
XM_011540347.2	4720	Missense Mutation	ATG,GTG	M1597V	XP_011538649.1
XM_017016913.1	4720	Missense Mutation	ATG,GTG	M1809V	XP_016872402.1
XM_017016914.1	4720	Missense Mutation	ATG,GTG	M1793V	XP_016872403.1
XM_017016915.1	4720	Missense Mutation	ATG,GTG	M1597V	XP_016872404.1

View Full Product Details