Product Details

SNP ID
rs200928711
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:15523131 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGGTGGCCGAGTCGGTGCAGGT[A/G]GAGGAAGAAGAAGGTGGCTTGGCTC
Phenotype
MIM: 607145 MIM: 601594
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DTNBP1 PubMed Links

Gene Details

Gene
DTNBP1
Gene Name
dystrobrevin binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271667.1 1089 Silent Mutation TCC,TCT S219S NP_001258596.1
NM_001271668.1 1089 Silent Mutation TCC,TCT S283S NP_001258597.1
NM_001271669.1 1089 Silent Mutation TCC,TCT S265S NP_001258598.1
NM_032122.4 1089 Silent Mutation TCC,TCT S300S NP_115498.2
NM_183040.2 1089 Intron NP_898861.1
XM_005249447.4 1089 Silent Mutation TCC,TCT S287S XP_005249504.1
XM_011514936.2 1089 Silent Mutation TCC,TCT S270S XP_011513238.1
XM_011514937.2 1089 Silent Mutation TCC,TCT S144S XP_011513239.1
XM_017011348.1 1089 Silent Mutation TCC,TCT S150S XP_016866837.1
XM_017011349.1 1089 Silent Mutation TCC,TCT S149S XP_016866838.1
Gene
JARID2
Gene Name
jumonji and AT-rich interaction domain containing 2
There are no transcripts associated with this gene.

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