Product Details

SNP ID: rs189428263
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:113409652 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATGGGGTAACGAACCGCTGGAACT[C/G]CATCTCTTCCATGGCTGAGAGCACA
Phenotype: MIM: 125270 MIM: 607267
Polymorphism: C/G, 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278629.1	477	Intron			NP_001265558.1
NM_001278630.1	477	Intron			NP_001265559.1
NM_152786.2	477	Intron			NP_689999.1
XM_005251885.3	477	Intron			XP_005251942.1
XM_011518477.1	477	Intron			XP_011516779.1
XM_011518478.1	477	Intron			XP_011516780.1
XM_011518479.2	477	Intron			XP_011516781.1

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	477	Missense Mutation	CAG,GAG	Q77E	NP_001265184.1
NM_017443.4	477	Missense Mutation	CAG,GAG	Q77E	NP_059139.3

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