Product Details

SNP ID
rs148640026
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41867829 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTGTTACATGCTCATGTGTTCC[A/G]GAAGAACATATGAAATATCATCCCA
Phenotype
MIM: 108728
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACLY PubMed Links

Gene Details

Gene
ACLY
Gene Name
ATP citrate lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001096.2 3457 Missense Mutation CCG,CTG P1096L NP_001087.2
NM_001303274.1 3457 Missense Mutation CCG,CTG P1150L NP_001290203.1
NM_001303275.1 3457 Missense Mutation CCG,CTG P1140L NP_001290204.1
NM_198830.1 3457 Missense Mutation CCG,CTG P1086L NP_942127.1
XM_005257395.1 3457 Missense Mutation CCG,CTG P1096L XP_005257452.1
XM_017024688.1 3457 Missense Mutation CCG,CTG P1086L XP_016880177.1
Gene
KLHL11
Gene Name
kelch like family member 11
There are no transcripts associated with this gene.

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