Product Details

SNP ID

rs201993310

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:54292779 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACCGGCAAGTTGACAATCTTGTC[C/T]GTAGGAAAAGGAATCTTCATGGCCA

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	1140	Silent Mutation	ACA,ACG	T239T	NP_001129495.1
NM_001261461.1	1140	Silent Mutation	ACA,ACG	T239T	NP_001248390.1
NM_006163.2	1140	Silent Mutation	ACA,ACG	T239T	NP_006154.1
XM_005268906.4	1140	Silent Mutation	ACA,ACG	T239T	XP_005268963.1

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