Product Details

SNP ID
rs139693539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41871738 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGATCAGCTTCCCTTCCTTCTTC[A/G]TCTTGTTCACAAACTCCATGGGGAT
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 3058 Missense Mutation ACG,ATG T963M NP_001087.2
NM_001303274.1 3058 Missense Mutation ACG,ATG T1017M NP_001290203.1
NM_001303275.1 3058 Missense Mutation ACG,ATG T1007M NP_001290204.1
NM_198830.1 3058 Missense Mutation ACG,ATG T953M NP_942127.1
XM_005257395.1 3058 Missense Mutation ACG,ATG T963M XP_005257452.1
XM_017024688.1 3058 Missense Mutation ACG,ATG T953M XP_016880177.1
Gene
KLHL11
Gene Name
kelch like family member 11
There are no transcripts associated with this gene.

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