Product Details

SNP ID
rs17135851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:2254057 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACGGGGGACCTGCGCCTCGGGGA[C/G]CGGGACCTGCGGGAAGAGGAGAAAC
Phenotype
MIM: 600305 MIM: 606447
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ECI1 PubMed Links

Gene Details

Gene
ECI1
Gene Name
enoyl-CoA delta isomerase 1
There are no transcripts associated with this gene.

Gene
RNPS1
Gene Name
RNA binding protein with serine rich domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286625.1 1300 Intron NP_001273554.1
NM_001286626.1 1300 Silent Mutation CGC,CGG R252R NP_001273555.1
NM_001286627.1 1300 Missense Mutation GCT,GGT A205G NP_001273556.1
NM_006711.4 1300 Intron NP_006702.1
NM_080594.3 1300 Silent Mutation CGC,CGG R275R NP_542161.1
XM_005255048.1 1300 Intron XP_005255105.1
XM_005255049.3 1300 Intron XP_005255106.1
XM_017022874.1 1300 Intron XP_016878363.1

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