Product Details

SNP ID

rs199960921

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:71826656 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTCTGGGTCCACAGTTTTTCTG[C/T]GGCCAGACATGACTGTCCCCTCTGG

Phenotype

MIM: 604875 MIM: 604485

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYO9A PubMed Links

Gene Details

Gene

MYO9A

Gene Name

myosin IXA

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006901.3	8018	Missense Mutation	CAC,CGC	H2524R	NP_008832.2
XM_006720539.2	8018	Missense Mutation	CAC,CGC	H2595R	XP_006720602.1
XM_011521613.2	8018	Missense Mutation	CAC,CGC	H2614R	XP_011519915.1
XM_011521614.2	8018	Missense Mutation	CAC,CGC	H2614R	XP_011519916.1
XM_011521615.2	8018	Missense Mutation	CAC,CGC	H2614R	XP_011519917.1
XM_011521616.2	8018	Missense Mutation	CAC,CGC	H2614R	XP_011519918.1
XM_011521617.2	8018	Missense Mutation	CAC,CGC	H2613R	XP_011519919.1
XM_011521618.2	8018	Missense Mutation	CAC,CGC	H2596R	XP_011519920.1
XM_011521619.2	8018	Missense Mutation	CAC,CGC	H2595R	XP_011519921.1
XM_011521620.2	8018	Missense Mutation	CAC,CGC	H2594R	XP_011519922.1
XM_011521621.2	8018	Missense Mutation	CAC,CGC	H2574R	XP_011519923.1
XM_011521622.2	8018	Missense Mutation	CAC,CGC	H2542R	XP_011519924.1
XM_011521623.2	8018	Missense Mutation	CAC,CGC	H1713R	XP_011519925.1
XM_017022228.1	8018	Missense Mutation	CAC,CGC	H2595R	XP_016877717.1
XM_017022229.1	8018	Missense Mutation	CAC,CGC	H2542R	XP_016877718.1
XM_017022230.1	8018	Missense Mutation	CAC,CGC	H2523R	XP_016877719.1

Gene

NR2E3

Gene Name

nuclear receptor subfamily 2 group E member 3

There are no transcripts associated with this gene.

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