Product Details

SNP ID
rs148944527
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:150068662 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTGAGTATGGTATACACACAATC[A/G]GAGATTCTACAGAAGGAAGTGTACC
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_001279353.1 347 Silent Mutation TCA,TCG S6S NP_001266282.1
NM_001279354.1 347 Silent Mutation TCA,TCG S6S NP_001266283.1
NM_001279355.1 347 Intron NP_001266284.1
NM_007259.4 347 Silent Mutation TCA,TCG S42S NP_009190.2
XM_017000164.1 347 Silent Mutation TCA,TCG S42S XP_016855653.1

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