Product Details

SNP ID

rs201293893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:56463579 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGTCTTACCTTGGGTGTGGTGG[G/T]GGCAGGGACCTGTGGGGAGGCCGCC

Phenotype

MIM: 113810

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DST PubMed Links

Gene Details

Gene

DST

Gene Name

dystonin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144769.2	16729	Missense Mutation	ACC,CCC	T5506P	NP_001138241.1
NM_001144770.1	16729	Missense Mutation	ACC,CCC	T5368P	NP_001138242.1
NM_001723.5	16729	Intron			NP_001714.1
NM_015548.4	16729	Missense Mutation	ACC,CCC	T5002P	NP_056363.2
NM_183380.3	16729	Missense Mutation	ACC,CCC	T5328P	NP_899236.1
XM_005249310.3	16729	Missense Mutation	ACC,CCC	T7649P	XP_005249367.1
XM_005249315.3	16729	Missense Mutation	ACC,CCC	T7616P	XP_005249372.1
XM_005249316.2	16729	Missense Mutation	ACC,CCC	T7554P	XP_005249373.1
XM_005249318.2	16729	Missense Mutation	ACC,CCC	T7511P	XP_005249375.1
XM_005249319.2	16729	Missense Mutation	ACC,CCC	T7478P	XP_005249376.1
XM_005249320.4	16729	Missense Mutation	ACC,CCC	T7471P	XP_005249377.1
XM_005249322.4	16729	Missense Mutation	ACC,CCC	T7464P	XP_005249379.1
XM_005249323.3	16729	Missense Mutation	ACC,CCC	T7438P	XP_005249380.1
XM_005249324.2	16729	Missense Mutation	ACC,CCC	T7112P	XP_005249381.1
XM_011514824.2	16729	Missense Mutation	ACC,CCC	T7625P	XP_011513126.1
XM_011514825.2	16729	Missense Mutation	ACC,CCC	T5515P	XP_011513127.1
XM_011514826.2	16729	Missense Mutation	ACC,CCC	T7329P	XP_011513128.1
XM_017011205.1	16729	Missense Mutation	ACC,CCC	T7658P	XP_016866694.1
XM_017011206.1	16729	Missense Mutation	ACC,CCC	T7652P	XP_016866695.1
XM_017011207.1	16729	Missense Mutation	ACC,CCC	T7637P	XP_016866696.1
XM_017011208.1	16729	Missense Mutation	ACC,CCC	T7634P	XP_016866697.1
XM_017011209.1	16729	Missense Mutation	ACC,CCC	T7628P	XP_016866698.1
XM_017011210.1	16729	Missense Mutation	ACC,CCC	T7658P	XP_016866699.1
XM_017011211.1	16729	Missense Mutation	ACC,CCC	T7634P	XP_016866700.1
XM_017011212.1	16729	Missense Mutation	ACC,CCC	T7580P	XP_016866701.1
XM_017011213.1	16729	Missense Mutation	ACC,CCC	T7549P	XP_016866702.1
XM_017011214.1	16729	Missense Mutation	ACC,CCC	T7525P	XP_016866703.1
XM_017011215.1	16729	Missense Mutation	ACC,CCC	T7549P	XP_016866704.1
XM_017011216.1	16729	Missense Mutation	ACC,CCC	T7525P	XP_016866705.1
XM_017011217.1	16729	Missense Mutation	ACC,CCC	T7450P	XP_016866706.1
XM_017011218.1	16729	Missense Mutation	ACC,CCC	T5847P	XP_016866707.1
XM_017011219.1	16729	Missense Mutation	ACC,CCC	T5572P	XP_016866708.1
XM_017011220.1	16729	Missense Mutation	ACC,CCC	T5530P	XP_016866709.1
XM_017011221.1	16729	Missense Mutation	ACC,CCC	T5494P	XP_016866710.1
XM_017011222.1	16729	Missense Mutation	ACC,CCC	T5468P	XP_016866711.1
XM_017011223.1	16729	Missense Mutation	ACC,CCC	T5463P	XP_016866712.1
XM_017011224.1	16729	Missense Mutation	ACC,CCC	T5243P	XP_016866713.1
XM_017011225.1	16729	Intron			XP_016866714.1

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