Product Details

SNP ID

rs150800568

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:77792469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGGGCAGGCTGGAATCCACAGGA[C/G]TTTATTTTGTTCTTGATTGACCATT

Phenotype

MIM: 604090

Polymorphism

C/G, Transversion 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	4744	Missense Mutation	CTC,GTC	L1911V	NP_004738.3
XM_005270276.4	4744	Missense Mutation	CTC,GTC	L1907V	XP_005270333.1
XM_006718056.3	4744	Missense Mutation	CTC,GTC	L1571V	XP_006718119.1
XM_006718057.3	4744	Intron			XP_006718120.1
XM_011540341.2	4744	Missense Mutation	CTC,GTC	L1852V	XP_011538643.1
XM_011540342.1	4744	Missense Mutation	CTC,GTC	L1821V	XP_011538644.1
XM_011540344.2	4744	Missense Mutation	CTC,GTC	L1799V	XP_011538646.1
XM_011540345.1	4744	Missense Mutation	CTC,GTC	L1756V	XP_011538647.1
XM_011540346.2	4744	Intron			XP_011538648.1
XM_011540347.2	4744	Missense Mutation	CTC,GTC	L1605V	XP_011538649.1
XM_017016913.1	4744	Missense Mutation	CTC,GTC	L1817V	XP_016872402.1
XM_017016914.1	4744	Missense Mutation	CTC,GTC	L1801V	XP_016872403.1
XM_017016915.1	4744	Missense Mutation	CTC,GTC	L1605V	XP_016872404.1

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