Product Details

SNP ID

rs139651821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:66429978 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGAACAGCAAGAAGCCTCAGCTG[C/G]ATGTGACTAGGGCCACCAATAAGCA

Phenotype

MIM: 611083

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ADHFE1 PubMed Links

Gene Details

Gene

ADHFE1

Gene Name

alcohol dehydrogenase, iron containing 1

There are no transcripts associated with this gene.

Gene

RRS1

Gene Name

ribosome biogenesis regulator homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015169.3	951	Missense Mutation	CAT,GAT	H283D	NP_055984.1

Gene

RRS1-AS1

Gene Name

RRS1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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