Product Details

SNP ID
rs140400945
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:150072222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGACCCAAATACACTATATATTT[C/T]ATTTGTAAGTATGTTAGTTCACTTT
Phenotype
MIM: 610035
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
VPS45 PubMed Links

Gene Details

Gene
VPS45
Gene Name
vacuolar protein sorting 45 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001279353.1 506 Silent Mutation TTC,TTT F59F NP_001266282.1
NM_001279354.1 506 Silent Mutation TTC,TTT F59F NP_001266283.1
NM_001279355.1 506 Intron NP_001266284.1
NM_007259.4 506 Silent Mutation TTC,TTT F95F NP_009190.2
XM_017000164.1 506 Silent Mutation TTC,TTT F95F XP_016855653.1

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