Product Details

SNP ID
rs414528
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.19:17219251 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TCCCAGCCAGTGAGTGAGAAGCAGT[C/T]GGCAGCTGAGCTAGACCTCGTCCTG
Phenotype
MIM: 602129 MIM: 610675
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYO9B PubMed Links

Gene Details

Gene
MYO9B
Gene Name
myosin IXB
There are no transcripts associated with this gene.

Gene
OCEL1
Gene Name
occludin/ELL domain containing 1
There are no transcripts associated with this gene.

Gene
USE1
Gene Name
unconventional SNARE in the ER 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018467.3 521 Missense Mutation TCG,TTG S154L NP_060937.1
XM_017026975.1 521 Missense Mutation TCG,TTG S154L XP_016882464.1
XM_017026976.1 521 Missense Mutation TCG,TTG S84L XP_016882465.1

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