Product Details

SNP ID

rs200631954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45834265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTGGCCGGCGACGGCCCCGGGG[A/G]GGCGGCGGCCAGTCCAGAGGCCGAG

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	175	Missense Mutation	GAG,GGG	E29G	NP_001036097.1
NM_001042633.2	175	Missense Mutation	GAG,GGG	E29G	NP_001036098.1
NM_033421.3	175	Missense Mutation	GAG,GGG	E29G	NP_219489.1
NM_152897.2	175	Missense Mutation	GAG,GGG	E29G	NP_690857.1
XM_005260608.4	175	Intron			XP_005260665.1
XM_011529095.2	175	Intron			XP_011527397.1
XM_011529096.2	175	Missense Mutation	GAG,GGG	E29G	XP_011527398.1
XM_011529098.2	175	Missense Mutation	GAG,GGG	E29G	XP_011527400.1
XM_011529099.2	175	Missense Mutation	GAG,GGG	E29G	XP_011527401.1
XM_017028120.1	175	Missense Mutation	GAG,GGG	E29G	XP_016883609.1

Gene

TNNC2

Gene Name

troponin C2, fast skeletal type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003279.2	175	Intron			NP_003270.1
XM_011529031.2	175	Intron			XP_011527333.1

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