Product Details

SNP ID: rs141113430
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:17219658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTGTCACACTCACTGAAAATGGCG[C/G]ACCAGAACCTGGAGAAACTGAAGAC
Phenotype: MIM: 602129 MIM: 610675
Polymorphism: C/G, Transversion 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	685	Missense Mutation	CAC,GAC	H209D	NP_060937.1
XM_017026975.1	685	Missense Mutation	CAC,GAC	H209D	XP_016882464.1
XM_017026976.1	685	Missense Mutation	CAC,GAC	H139D	XP_016882465.1

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