Product Details

SNP ID

rs116333833

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:33987366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGAAAGCTTAAATTCTGATTCTG[A/C]CCCTTCCTAGTTGCATATTCCTGAG

Phenotype

MIM: 604489 MIM: 606202

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AMACR PubMed Links

Gene Details

Gene

AMACR

Gene Name

alpha-methylacyl-CoA racemase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167595.1	2223	UTR 3			NP_001161067.1
NM_014324.5	2223	UTR 3			NP_055139.4
NM_203382.2	2223	UTR 3			NP_976316.1

Gene

C1QTNF3-AMACR

Gene Name

C1QTNF3-AMACR readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

SLC45A2

Gene Name

solute carrier family 45 member 2

There are no transcripts associated with this gene.

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