Product Details

SNP ID

rs73911119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45835018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCTCCTGGCGCGGCAGCTGCAG[A/G]ATTTCTGGAAGAAGTCCCGGAACAC

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

There are no transcripts associated with this gene.

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	438	Missense Mutation	AAT,GAT	N117D	NP_001036097.1
NM_001042633.2	438	Missense Mutation	AAT,GAT	N117D	NP_001036098.1
NM_033421.3	438	Missense Mutation	AAT,GAT	N117D	NP_219489.1
NM_152897.2	438	Missense Mutation	AAT,GAT	N117D	NP_690857.1
XM_005260608.4	438	Intron			XP_005260665.1
XM_011529095.2	438	Intron			XP_011527397.1
XM_011529096.2	438	Missense Mutation	AAT,GAT	N117D	XP_011527398.1
XM_011529098.2	438	Missense Mutation	AAT,GAT	N117D	XP_011527400.1
XM_011529099.2	438	Missense Mutation	AAT,GAT	N117D	XP_011527401.1
XM_017028120.1	438	Missense Mutation	AAT,GAT	N117D	XP_016883609.1

Gene

TNNC2

Gene Name

troponin C2, fast skeletal type

There are no transcripts associated with this gene.

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