Product Details

SNP ID: rs144740482
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:132659667 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAAAGCCAGACAAGTGCTGGTTTA[G/T]GTAGGCCTCCAGGGACTTGCTGTCG
Phenotype: MIM: 614288 MIM: 610552
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: ACAD11 PubMed Links

Gene Details

Gene: ACAD11
Gene Name: acyl-CoA dehydrogenase family member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032169.4	171	Silent Mutation	GTA,TTA	V29L	NP_115545.3

Gene: NPHP3-ACAD11
Gene Name: NPHP3-ACAD11 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene: UBA5
Gene Name: ubiquitin like modifier activating enzyme 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320210.1	171	Intron			NP_001307139.1
NM_001321238.1	171	Intron			NP_001308167.1
NM_001321239.1	171	UTR 5			NP_001308168.1
NM_024818.4	171	UTR 5			NP_079094.1
NM_198329.3	171	Intron			NP_938143.1

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