Product Details

SNP ID
rs142737710
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:700692 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCTGATGGGGATTCTAGAAGCA[C/G]TTCGGTTATACCTGGGTGAGTGGAC
Phenotype
MIM: 602635 MIM: 614988
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DEAF1 PubMed Links

Gene Details

Gene
DEAF1
Gene Name
DEAF1, transcription factor
There are no transcripts associated with this gene.

Gene
EPS8L2
Gene Name
EPS8 like 2
There are no transcripts associated with this gene.

Gene
TMEM80
Gene Name
transmembrane protein 80
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042463.2 448 Missense Mutation CTT,GTT L144V NP_001035928.2
NM_001276253.1 448 Intron NP_001263182.1
NM_001276274.1 448 Missense Mutation CTT,GTT L144V NP_001263203.1
NM_174940.3 448 Missense Mutation CTT,GTT L136V NP_777600.3
XM_006718206.3 448 Missense Mutation CTT,GTT L144V XP_006718269.3
XM_017017600.1 448 Missense Mutation CTT,GTT L136V XP_016873089.1

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