Product Details

SNP ID

rs200826911

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:113408946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTTTGTCCTTCTTCTTTTGCTC[G/T]GAGGCCTCCTTCTTGCCTTTCTGCT

Phenotype

MIM: 125270 MIM: 607267

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ALAD PubMed Links

Gene Details

Gene

ALAD

Gene Name

aminolevulinate dehydratase

There are no transcripts associated with this gene.

Gene

C9orf43

Gene Name

chromosome 9 open reading frame 43

There are no transcripts associated with this gene.

Gene

POLE3

Gene Name

DNA polymerase epsilon 3, accessory subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278255.1	557	Silent Mutation	TCA,TCC	S103S	NP_001265184.1
NM_017443.4	557	Silent Mutation	TCA,TCC	S103S	NP_059139.3

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