Product Details

SNP ID

rs111896282

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140551140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACTGTTCCTGCAGCAGTGCCAG[A/G]CGTCGGCTGATGTCATCACATACCT

Phenotype

MIM: 602711 MIM: 603483 MIM: 603819

Polymorphism

A/G, 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

There are no transcripts associated with this gene.

Gene

EIF4EBP3

Gene Name

eukaryotic translation initiation factor 4E binding protein 3

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	340	Silent Mutation	CGC,CGT	R140R	NP_001030312.2
NM_001253764.1	340	Silent Mutation	CGC,CGT	R112R	NP_001240693.1

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