Product Details

SNP ID
rs138493643
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7226427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATGTGGGGATGACTTACCCTCAC[C/T]ATGCTGGCTGCTGGCACTGCCCCCA
Phenotype
MIM: 609575 MIM: 602887 MIM: 602151 MIM: 612910
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ACADVL PubMed Links

Gene Details

Gene
ACADVL
Gene Name
acyl-CoA dehydrogenase, very long chain
There are no transcripts associated with this gene.

Gene
DLG4
Gene Name
discs large MAGUK scaffold protein 4
There are no transcripts associated with this gene.

Gene
DVL2
Gene Name
dishevelled segment polarity protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004422.2 1384 Missense Mutation AGT,GGT S586G NP_004413.1
XM_005256502.1 1384 Missense Mutation AGT,GGT S582G XP_005256559.1
XM_017024298.1 1384 Missense Mutation AGT,GGT S326G XP_016879787.1
Gene
MIR324
Gene Name
microRNA 324
There are no transcripts associated with this gene.

Gene
PHF23
Gene Name
PHD finger protein 23
There are no transcripts associated with this gene.

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