Product Details

SNP ID
rs138766975
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140558751 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCTGGTCCGCTTGAGCCGCAGG[C/T]GGGCACGGGCCTGGGCACCCCAGGC
Phenotype
MIM: 602711 MIM: 603483 MIM: 603819
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKHD1-EIF4EBP3 PubMed Links

Gene Details

Gene
ANKHD1-EIF4EBP3
Gene Name
ANKHD1-EIF4EBP3 readthrough
There are no transcripts associated with this gene.

Gene
APBB3
Gene Name
amyloid beta precursor protein binding family B member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006051.3 1648 Missense Mutation CAC,CGC H439R NP_006042.3
NM_133172.2 1648 Missense Mutation CAC,CGC H437R NP_573418.2
NM_133173.2 1648 Missense Mutation CAC,CGC H432R NP_573419.2
NM_133174.2 1648 Missense Mutation CAC,CGC H430R NP_573420.2
Gene
EIF4EBP3
Gene Name
eukaryotic translation initiation factor 4E binding protein 3
There are no transcripts associated with this gene.

Gene
MIR6831
Gene Name
microRNA 6831
There are no transcripts associated with this gene.

Gene
SLC35A4
Gene Name
solute carrier family 35 member A4
There are no transcripts associated with this gene.

Gene
SRA1
Gene Name
steroid receptor RNA activator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035235.3 1648 Intron NP_001030312.2
NM_001253764.1 1648 Intron NP_001240693.1

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