Product Details

SNP ID
rs143582582
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:154888257 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTTCTGTAAGTTTTCGTGTTGC[C/T]GTATTTCTGAAGGAGCTCTTGGGCC
Phenotype
MIM: 607005
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GEMIN5 PubMed Links

Gene Details

Gene
GEMIN5
Gene Name
gem nuclear organelle associated protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252156.1 4560 Missense Mutation AGC,GGC S1493G NP_001239085.1
NM_015465.4 4560 Missense Mutation AGC,GGC S1494G NP_056280.2

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