Product Details

SNP ID

rs200087086

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:25383866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTCCCATTCTGCATCTTCTCTT[C/T]TTCTTCCTCTGCACCTTCCTCTGCT

Phenotype

MIM: 602415

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DTNB PubMed Links

Gene Details

Gene

DTNB

Gene Name

dystrobrevin beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256303.1	1932	Missense Mutation	AAA,GAA	K610E	NP_001243232.1
NM_001256304.1	1932	Intron			NP_001243233.1
NM_001256308.2	1932	Intron			NP_001243237.1
NM_001320932.1	1932	Intron			NP_001307861.1
NM_001320933.1	1932	Missense Mutation	AAA,GAA	K580E	NP_001307862.1
NM_001320934.1	1932	Missense Mutation	AAA,GAA	K587E	NP_001307863.1
NM_001320935.1	1932	Missense Mutation	AAA,GAA	K406E	NP_001307864.1
NM_001320936.1	1932	Intron			NP_001307865.1
NM_001320937.1	1932	Intron			NP_001307866.1
NM_021907.4	1932	Missense Mutation	AAA,GAA	K617E	NP_068707.1
NM_033147.3	1932	Missense Mutation	AAA,GAA	K587E	NP_149159.2
NM_033148.3	1932	Missense Mutation	AAA,GAA	K557E	NP_149160.1
NM_183360.2	1932	Intron			NP_899204.1
NM_183361.2	1932	Missense Mutation	AAA,GAA	K550E	NP_899205.1
XM_005264182.1	1932	Intron			XP_005264239.1
XM_011532671.1	1932	Missense Mutation	AAA,GAA	K623E	XP_011530973.1
XM_011532672.2	1932	Intron			XP_011530974.1
XM_011532673.1	1932	Missense Mutation	AAA,GAA	K616E	XP_011530975.1
XM_011532674.1	1932	Intron			XP_011530976.1
XM_011532675.1	1932	Intron			XP_011530977.1
XM_011532676.1	1932	Missense Mutation	AAA,GAA	K593E	XP_011530978.1
XM_011532677.2	1932	Missense Mutation	AAA,GAA	K566E	XP_011530979.1
XM_011532679.1	1932	Intron			XP_011530981.1
XM_011532680.2	1932	Missense Mutation	AAA,GAA	K476E	XP_011530982.1
XM_011532681.2	1932	Missense Mutation	AAA,GAA	K470E	XP_011530983.1
XM_017003529.1	1932	Missense Mutation	AAA,GAA	K586E	XP_016859018.1
XM_017003530.1	1932	Intron			XP_016859019.1
XM_017003531.1	1932	Intron			XP_016859020.1
XM_017003532.1	1932	Intron			XP_016859021.1
XM_017003533.1	1932	Intron			XP_016859022.1
XM_017003534.1	1932	Intron			XP_016859023.1
XM_017003535.1	1932	Intron			XP_016859024.1
XM_017003536.1	1932	Intron			XP_016859025.1
XM_017003537.1	1932	Missense Mutation	AAA,GAA	K485E	XP_016859026.1
XM_017003538.1	1932	Missense Mutation	AAA,GAA	K463E	XP_016859027.1
XM_017003539.1	1932	Missense Mutation	AAA,GAA	K446E	XP_016859028.1
XM_017003540.1	1932	Missense Mutation	AAA,GAA	K440E	XP_016859029.1
XM_017003541.1	1932	Intron			XP_016859030.1
XM_017003542.1	1932	Missense Mutation	AAA,GAA	K389E	XP_016859031.1
XM_017003543.1	1932	Missense Mutation	AAA,GAA	K389E	XP_016859032.1
XM_017003544.1	1932	Missense Mutation	AAA,GAA	K383E	XP_016859033.1
XM_017003545.1	1932	Missense Mutation	AAA,GAA	K383E	XP_016859034.1

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