Product Details

SNP ID
rs34534239
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:186790337 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAGCTGACTTTACCTTGACCACAG[C/T]TTCTAGTTTGTCAAAAGAGCCACTC
Phenotype
MIM: 601102 MIM: 102577 MIM: 180647 MIM: 611334
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EIF4A2 PubMed Links

Gene Details

Gene
EIF4A2
Gene Name
eukaryotic translation initiation factor 4A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001967.3 1153 Intron NP_001958.2
Gene
MIR1248
Gene Name
microRNA 1248
There are no transcripts associated with this gene.

Gene
RFC4
Gene Name
replication factor C subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002916.3 1153 Missense Mutation ACT,GCT T291A NP_002907.1
NM_181573.2 1153 Missense Mutation ACT,GCT T291A NP_853551.1
Gene
SNORA4
Gene Name
small nucleolar RNA, H/ACA box 4
There are no transcripts associated with this gene.

Gene
SNORA63
Gene Name
small nucleolar RNA, H/ACA box 63
There are no transcripts associated with this gene.

Gene
SNORA81
Gene Name
small nucleolar RNA, H/ACA box 81
There are no transcripts associated with this gene.

Gene
SNORD2
Gene Name
small nucleolar RNA, C/D box 2
There are no transcripts associated with this gene.

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