Product Details

SNP ID
rs202004334
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:73496636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCCTGAAGCATTTCTTGGTTTC[C/T]TTCATTTCCTAAGTTGAGTATCTTC
Phenotype
MIM: 614313 MIM: 611919
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ACOT1 PubMed Links

Gene Details

Gene
ACOT1
Gene Name
acyl-CoA thioesterase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037161.1 3420 Intron NP_001032238.1
XM_017021589.1 3420 Intron XP_016877078.1
XM_017021590.1 3420 Intron XP_016877079.1
XM_017021591.1 3420 Intron XP_016877080.1
XM_017021592.1 3420 Intron XP_016877081.1
Gene
C14orf169
Gene Name
chromosome 14 open reading frame 169
There are no transcripts associated with this gene.

Gene
HEATR4
Gene Name
HEAT repeat containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001220484.1 3420 Missense Mutation AGA,GGA R864G NP_001207413.1
NM_203309.2 3420 Missense Mutation AGA,GGA R864G NP_976054.2
XM_006720143.2 3420 Missense Mutation AGA,GGA R864G XP_006720206.1
XM_011536760.2 3420 Missense Mutation AGA,GGA R864G XP_011535062.1
XM_011536761.2 3420 Intron XP_011535063.1
XM_017021289.1 3420 Missense Mutation AGA,GGA R864G XP_016876778.1

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