Product Details

SNP ID

rs200299006

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73498209 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCACGTCTAGGAAGGTGTCCCTG[A/G]CCCGGTCCCCTTGAAGTTTCAGGGC

Phenotype

MIM: 614313 MIM: 611919

Polymorphism

A/G, 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	3322	Intron			NP_001032238.1
XM_017021589.1	3322	Intron			XP_016877078.1
XM_017021590.1	3322	Intron			XP_016877079.1
XM_017021591.1	3322	Intron			XP_016877080.1
XM_017021592.1	3322	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	3322	Missense Mutation	GCC,GTC	A831V	NP_001207413.1
NM_203309.2	3322	Missense Mutation	GCC,GTC	A831V	NP_976054.2
XM_006720143.2	3322	Missense Mutation	GCC,GTC	A831V	XP_006720206.1
XM_011536760.2	3322	Missense Mutation	GCC,GTC	A831V	XP_011535062.1
XM_011536761.2	3322	Intron			XP_011535063.1
XM_017021289.1	3322	Missense Mutation	GCC,GTC	A831V	XP_016876778.1

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