Product Details

SNP ID
rs183320612
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:150072197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGATTATATTATTCAGGAGCTCC[A/G]AAGACCCAAATACACTATATATTTC
Phenotype
MIM: 610035
Polymorphism
A/G, 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_001279353.1 481 Missense Mutation CAA,CGA Q51R NP_001266282.1
NM_001279354.1 481 Missense Mutation CAA,CGA Q51R NP_001266283.1
NM_001279355.1 481 Intron NP_001266284.1
NM_007259.4 481 Missense Mutation CAA,CGA Q87R NP_009190.2
XM_017000164.1 481 Missense Mutation CAA,CGA Q87R XP_016855653.1

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