Product Details

SNP ID

rs2343616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17218540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTGGATGCTCTTCCCAGAAGT[A/C]AAAGGCCAGGCGCAGTGGCTCACGC

Phenotype

MIM: 602129 MIM: 610675

Polymorphism

A/C, 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		Intron			NP_060937.1
XM_017026975.1		Intron			XP_016882464.1
XM_017026976.1		Intron			XP_016882465.1

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