Product Details

SNP ID
rs147268784
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:48930510 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCTCTGGCCTCCTCAGCTGTAA[C/T]CTCCTGGGAGTAGAGGTCAGTGAAG
Phenotype
MIM: 610904 MIM: 611362
Polymorphism
C/T, Transition 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_001317192.1 847 Missense Mutation ATT,GTT I247V NP_001304121.1
NM_001317193.1 847 Missense Mutation ATT,GTT I231V NP_001304122.1
NM_001317194.1 847 Missense Mutation ATT,GTT I144V NP_001304123.1
NM_007241.3 847 Missense Mutation ATT,GTT I248V NP_009172.2
XM_017024075.1 847 Missense Mutation ATT,GTT I144V XP_016879564.1
Gene
UBE2Z
Gene Name
ubiquitin conjugating enzyme E2 Z
There are no transcripts associated with this gene.

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