Product Details

SNP ID

rs200788025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:71826794 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGGCTTGTCTTCCAGGAATTTG[G/T]TCTGGCCCAATGGTCCTTCCATTCC

Phenotype

MIM: 604875 MIM: 604485

Polymorphism

G/T, Transversion 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	7880	Missense Mutation	AAC,ACC	N2478T	NP_008832.2
XM_006720539.2	7880	Missense Mutation	AAC,ACC	N2549T	XP_006720602.1
XM_011521613.2	7880	Missense Mutation	AAC,ACC	N2568T	XP_011519915.1
XM_011521614.2	7880	Missense Mutation	AAC,ACC	N2568T	XP_011519916.1
XM_011521615.2	7880	Missense Mutation	AAC,ACC	N2568T	XP_011519917.1
XM_011521616.2	7880	Missense Mutation	AAC,ACC	N2568T	XP_011519918.1
XM_011521617.2	7880	Missense Mutation	AAC,ACC	N2567T	XP_011519919.1
XM_011521618.2	7880	Missense Mutation	AAC,ACC	N2550T	XP_011519920.1
XM_011521619.2	7880	Missense Mutation	AAC,ACC	N2549T	XP_011519921.1
XM_011521620.2	7880	Missense Mutation	AAC,ACC	N2548T	XP_011519922.1
XM_011521621.2	7880	Missense Mutation	AAC,ACC	N2528T	XP_011519923.1
XM_011521622.2	7880	Missense Mutation	AAC,ACC	N2496T	XP_011519924.1
XM_011521623.2	7880	Missense Mutation	AAC,ACC	N1667T	XP_011519925.1
XM_017022228.1	7880	Missense Mutation	AAC,ACC	N2549T	XP_016877717.1
XM_017022229.1	7880	Missense Mutation	AAC,ACC	N2496T	XP_016877718.1
XM_017022230.1	7880	Missense Mutation	AAC,ACC	N2477T	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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