Product Details

SNP ID

rs112148438

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:25383649 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAATGAGGAAGCTCTTGGTGAT[C/T]GACTGACCTTGTCACCTGGAAGGTA

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

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