Product Details

SNP ID
rs199966492
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:36240245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGACCAGTTCCTGGGGCCTTACC[C/T]ATATGCCACCCTGAAGAAGTGGATC
Phenotype
MIM: 602879
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AAR2 PubMed Links

Gene Details

Gene
AAR2
Gene Name
AAR2 splicing factor homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271874.1 602 Missense Mutation CCA,CTA P126L NP_001258803.1
NM_015511.4 602 Missense Mutation CCA,CTA P126L NP_056326.2
XM_006723770.3 602 Missense Mutation CCA,CTA P126L XP_006723833.1
XM_011528762.2 602 Missense Mutation CCA,CTA P126L XP_011527064.1
XM_011528763.2 602 Missense Mutation CCA,CTA P126L XP_011527065.1
Gene
EPB41L1
Gene Name
erythrocyte membrane protein band 4.1 like 1
There are no transcripts associated with this gene.

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