Product Details

SNP ID
rs188130682
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:150068651 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGACTGGCATAGTGAGTATGGTA[A/T]ACACACAATCGGAGATTCTACAGAA
Phenotype
MIM: 610035
Polymorphism
A/T, Transversion 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_001279353.1 336 Missense Mutation AAC,TAC N3Y NP_001266282.1
NM_001279354.1 336 Missense Mutation AAC,TAC N3Y NP_001266283.1
NM_001279355.1 336 Intron NP_001266284.1
NM_007259.4 336 Missense Mutation AAC,TAC N39Y NP_009190.2
XM_017000164.1 336 Missense Mutation AAC,TAC N39Y XP_016855653.1

View Full Product Details