Product Details

SNP ID
rs149812377
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:48930534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCCTGGGAGTAGAGGTCAGTGA[A/C]GAGAGCTGGCAGCCAGTAGTGGGCC
Phenotype
MIM: 610904 MIM: 611362
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SNF8 PubMed Links

Gene Details

Gene
SNF8
Gene Name
SNF8, ESCRT-II complex subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317192.1 823 Missense Mutation GTC,TTC V239F NP_001304121.1
NM_001317193.1 823 Missense Mutation GTC,TTC V223F NP_001304122.1
NM_001317194.1 823 Missense Mutation GTC,TTC V136F NP_001304123.1
NM_007241.3 823 Missense Mutation GTC,TTC V240F NP_009172.2
XM_017024075.1 823 Missense Mutation GTC,TTC V136F XP_016879564.1
Gene
UBE2Z
Gene Name
ubiquitin conjugating enzyme E2 Z
There are no transcripts associated with this gene.

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