Product Details

SNP ID

rs2295900

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:159780863 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAGCTGTTTTCTGTCAATATTC[C/T]AATGTAAAAAGACCTTTGATAGGAT

Phenotype

MIM: 100678 MIM: 611831 MIM: 186980

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACAT2 PubMed Links

Gene Details

Gene

ACAT2

Gene Name

acetyl-CoA acetyltransferase 2

There are no transcripts associated with this gene.

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		Intron			NP_001008897.1
NM_030752.2		Intron			NP_110379.2

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