Product Details

SNP ID
rs200416216
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:11068041 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCCAGTTGGAAAGGACATGCTT[C/T]TGTTTCCCACCGACTGTTTAATTTT
Phenotype
MIM: 605960 MIM: 182891
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EXOSC10 PubMed Links

Gene Details

Gene
EXOSC10
Gene Name
exosome component 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001998.2 2673 Missense Mutation AAA,AGA K865R NP_001001998.1
NM_002685.3 2673 Missense Mutation AAA,AGA K840R NP_002676.1
XM_005263475.2 2673 Missense Mutation AAA,AGA K870R XP_005263532.2
XM_017001494.1 2673 Missense Mutation AAA,AGA K454R XP_016856983.1
XM_017001495.1 2673 Missense Mutation AAA,AGA K449R XP_016856984.1
XM_017001496.1 2673 Missense Mutation AAA,AGA K438R XP_016856985.1
XM_017001497.1 2673 Missense Mutation AAA,AGA K433R XP_016856986.1
Gene
SRM
Gene Name
spermidine synthase
There are no transcripts associated with this gene.

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