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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