Product Details

SNP ID
rs149268432
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:130699350 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGAGGAGAAGATCTGCAGAAGAT[A/G]AGCTTGCAATGAGAGGTTTCTTACA
Phenotype
MIM: 602238
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EXOSC2 PubMed Links

Gene Details

Gene
EXOSC2
Gene Name
exosome component 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282708.1 414 Missense Mutation AAG,GAG K128E NP_001269637.1
NM_001282709.1 414 Missense Mutation AAG,GAG K98E NP_001269638.1
NM_014285.6 414 Missense Mutation AAG,GAG K128E NP_055100.2
XM_005272176.2 414 Missense Mutation AAG,GAG K16E XP_005272233.1
XM_006717023.2 414 UTR 5 XP_006717086.1
XM_017014558.1 414 Missense Mutation AAG,GAG K16E XP_016870047.1

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