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SNP ID: rs143518276
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45841873 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTCTGAGACCTGGGGCTTCACTC[A/G]GATCACGCCCTCCTGGGCACAGGTC
Phenotype: MIM: 608123 MIM: 191039
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ACOT8 PubMed Links

Gene Details

Gene: ACOT8
Gene Name: acyl-CoA thioesterase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005469.3	1764	Nonsense Mutation	CGA,TGA	R309*	NP_005460.2
XM_005260239.3	1764	Nonsense Mutation	CGA,TGA	R256*	XP_005260296.1
XM_011528480.2	1764	Nonsense Mutation	CGA,TGA	R174*	XP_011526782.1

Gene: SNX21
Gene Name: sorting nexin family member 21

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042632.2	1764	UTR 3			NP_001036097.1
NM_001042633.2	1764	UTR 3			NP_001036098.1
NM_033421.3	1764	UTR 3			NP_219489.1
NM_152897.2	1764	Intron			NP_690857.1
XM_005260608.4	1764	UTR 3			XP_005260665.1
XM_011529095.2	1764	UTR 3			XP_011527397.1
XM_011529096.2	1764	Intron			XP_011527398.1
XM_011529098.2	1764	Intron			XP_011527400.1
XM_011529099.2	1764	Intron			XP_011527401.1
XM_017028120.1	1764	Intron			XP_016883609.1

Gene: TNNC2
Gene Name: troponin C2, fast skeletal type

There are no transcripts associated with this gene.

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