Product Details

SNP ID

rs115712437

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:25384795 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTAGAGTTGATCATGAATGAGCT[C/T]GCTGGAAATATTCAGAGGACTGTTT

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	4251	Intron			NP_001243232.1
NM_001256304.1	4251	Intron			NP_001243233.1
NM_001256308.2	4251	Intron			NP_001243237.1
NM_001320932.1	4251	Intron			NP_001307861.1
NM_001320933.1	4251	Intron			NP_001307862.1
NM_001320934.1	4251	Intron			NP_001307863.1
NM_001320935.1	4251	Intron			NP_001307864.1
NM_001320936.1	4251	Intron			NP_001307865.1
NM_001320937.1	4251	Intron			NP_001307866.1
NM_021907.4	4251	Intron			NP_068707.1
NM_033147.3	4251	Intron			NP_149159.2
NM_033148.3	4251	Intron			NP_149160.1
NM_183360.2	4251	Intron			NP_899204.1
NM_183361.2	4251	Intron			NP_899205.1
XM_005264182.1	4251	Intron			XP_005264239.1
XM_011532671.1	4251	Intron			XP_011530973.1
XM_011532672.2	4251	Intron			XP_011530974.1
XM_011532673.1	4251	Intron			XP_011530975.1
XM_011532674.1	4251	Intron			XP_011530976.1
XM_011532675.1	4251	Intron			XP_011530977.1
XM_011532676.1	4251	Intron			XP_011530978.1
XM_011532677.2	4251	Intron			XP_011530979.1
XM_011532679.1	4251	Intron			XP_011530981.1
XM_011532680.2	4251	Intron			XP_011530982.1
XM_011532681.2	4251	Intron			XP_011530983.1
XM_017003529.1	4251	Intron			XP_016859018.1
XM_017003530.1	4251	UTR 3			XP_016859019.1
XM_017003531.1	4251	Intron			XP_016859020.1
XM_017003532.1	4251	Intron			XP_016859021.1
XM_017003533.1	4251	Intron			XP_016859022.1
XM_017003534.1	4251	Intron			XP_016859023.1
XM_017003535.1	4251	Intron			XP_016859024.1
XM_017003536.1	4251	Intron			XP_016859025.1
XM_017003537.1	4251	Intron			XP_016859026.1
XM_017003538.1	4251	Intron			XP_016859027.1
XM_017003539.1	4251	Intron			XP_016859028.1
XM_017003540.1	4251	Intron			XP_016859029.1
XM_017003541.1	4251	Intron			XP_016859030.1
XM_017003542.1	4251	Intron			XP_016859031.1
XM_017003543.1	4251	Intron			XP_016859032.1
XM_017003544.1	4251	Intron			XP_016859033.1
XM_017003545.1	4251	Intron			XP_016859034.1

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