Product Details

SNP ID

rs201063084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:159780017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACAAAGTGCATCATGTAAAGAGC[A/G]CTCCATCTCATCACACATGAAATCA

Phenotype

MIM: 100678 MIM: 611831 MIM: 186980

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACAT2 PubMed Links

Gene Details

Gene

ACAT2

Gene Name

acetyl-CoA acetyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303253.1	1403	Intron			NP_001290182.1
NM_005891.2	1403	Intron			NP_005882.2

Gene

MRPL18

Gene Name

mitochondrial ribosomal protein L18

There are no transcripts associated with this gene.

Gene

SNORA20

Gene Name

small nucleolar RNA, H/ACA box 20

There are no transcripts associated with this gene.

Gene

SNORA29

Gene Name

small nucleolar RNA, H/ACA box 29

There are no transcripts associated with this gene.

Gene

TCP1

Gene Name

t-complex 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008897.1	1403	Missense Mutation	CGC,TGC	R235C	NP_001008897.1
NM_030752.2	1403	Missense Mutation	CGC,TGC	R390C	NP_110379.2

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