Product Details

SNP ID

rs12433518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74713391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAGAGGGTCTGGGTTATTTGAG[C/G]CAAGAAGGGAAGGCAATAGACAAGA

Phenotype

MIM: 615380

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AREL1 PubMed Links

Gene Details

Gene

AREL1

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039479.1		Intron			NP_001034568.1
XM_005268244.3		Intron			XP_005268301.1
XM_006720344.2		Intron			XP_006720407.1
XM_011537415.2		Intron			XP_011535717.1
XM_011537416.2		Intron			XP_011535718.1
XM_011537417.2		Intron			XP_011535719.1

Gene

FCF1

Gene Name

FCF1 rRNA-processing protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318508.1		Intron			NP_001305437.1
NM_015962.4		Intron			NP_057046.1
XM_005267730.3		Intron			XP_005267787.1
XM_011536815.2		Intron			XP_011535117.1
XM_011536816.2		Intron			XP_011535118.1

View Full Product Details