Product Details

SNP ID
rs148780688
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:54293347 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAAGGTATGGAGCTGGGGCTTGG[G/T]GCTCAAATGATGGCTCACTTGGAGC
Phenotype
MIM: 164017 MIM: 601490
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
HNRNPA1 PubMed Links

Gene Details

Gene
HNRNPA1
Gene Name
heterogeneous nuclear ribonucleoprotein A1
There are no transcripts associated with this gene.

Gene
NFE2
Gene Name
nuclear factor, erythroid 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136023.2 572 Missense Mutation CAC,CCC H50P NP_001129495.1
NM_001261461.1 572 Missense Mutation CAC,CCC H50P NP_001248390.1
NM_006163.2 572 Missense Mutation CAC,CCC H50P NP_006154.1
XM_005268906.4 572 Missense Mutation CAC,CCC H50P XP_005268963.1

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