Product Details

SNP ID
rs147232488
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7190731 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCAGAGTCTCTCTCGGGCTGGAA[C/T]CCAGATGTAGGGGCCTGAGAGGTCC
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 2279 Missense Mutation ATT,GTT I715V NP_001122299.1
NM_001321074.1 2279 Missense Mutation ATT,GTT I758V NP_001308003.1
NM_001321075.1 2279 Missense Mutation ATT,GTT I718V NP_001308004.1
NM_001321076.1 2279 Missense Mutation ATT,GTT I658V NP_001308005.1
NM_001321077.1 2279 Missense Mutation ATT,GTT I658V NP_001308006.1
NM_001365.4 2279 Missense Mutation ATT,GTT I761V NP_001356.1
XM_005256491.1 2279 Missense Mutation ATT,GTT I748V XP_005256548.1
XM_011523698.1 2279 Missense Mutation ATT,GTT I791V XP_011522000.1
XM_011523699.2 2279 Missense Mutation ATT,GTT I791V XP_011522001.1
XM_011523702.1 2279 Missense Mutation ATT,GTT I658V XP_011522004.1
XM_017024288.1 2279 Missense Mutation ATT,GTT I696V XP_016879777.1
XM_017024289.1 2279 Missense Mutation ATT,GTT I693V XP_016879778.1
XM_017024290.1 2279 Missense Mutation ATT,GTT I691V XP_016879779.1

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