Product Details

SNP ID

rs139796996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:54292840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATCCCGACTCCCTGCCTCCCCC[C/T]GTGCAGTGGGCTTAGCCCGCACAGG

Phenotype

MIM: 164017 MIM: 601490

Polymorphism

C/T, Transition 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	1079	Missense Mutation	CAG,CGG	Q219R	NP_001129495.1
NM_001261461.1	1079	Missense Mutation	CAG,CGG	Q219R	NP_001248390.1
NM_006163.2	1079	Missense Mutation	CAG,CGG	Q219R	NP_006154.1
XM_005268906.4	1079	Missense Mutation	CAG,CGG	Q219R	XP_005268963.1

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