Product Details

SNP ID
rs199954100
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:8892246 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTGAGCATTTTGAGCCGCTGCAG[A/G]CAGCTGAACTGGGCGGGCAGAGCCT
Phenotype
MIM: 608739 MIM: 605352
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ERI1 PubMed Links

Gene Details

Gene
ERI1
Gene Name
exoribonuclease 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153332.3 1350 Intron NP_699163.2
XM_005272401.2 1350 Intron XP_005272458.1
XM_011543848.2 1350 Intron XP_011542150.1
XM_011543849.1 1350 Intron XP_011542151.1
XM_011543850.2 1350 Intron XP_011542152.1
XM_011543851.1 1350 Intron XP_011542153.1
XM_017013949.1 1350 UTR 5 XP_016869438.1
XM_017013950.1 1350 Intron XP_016869439.1
XM_017013951.1 1350 Intron XP_016869440.1
XM_017013952.1 1350 Intron XP_016869441.1
XM_017013953.1 1350 Intron XP_016869442.1
XM_017013954.1 1350 Intron XP_016869443.1
XM_017013955.1 1350 Intron XP_016869444.1
Gene
MFHAS1
Gene Name
malignant fibrous histiocytoma amplified sequence 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004225.2 1350 Silent Mutation TGC,TGT C271C NP_004216.2
XM_011543852.2 1350 Silent Mutation TGC,TGT C271C XP_011542154.1

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