Product Details

SNP ID
rs78975928
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:15523073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGAACTTCCTCCTCATCGGACT[T/G]AACAACGGGGGACTCCCCACCCTCA
Phenotype
MIM: 607145 MIM: 601594
Polymorphism
T/G, Transversion 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 1147 Missense Mutation AAG,CAG K239Q NP_001258596.1
NM_001271668.1 1147 Missense Mutation AAG,CAG K303Q NP_001258597.1
NM_001271669.1 1147 Missense Mutation AAG,CAG K285Q NP_001258598.1
NM_032122.4 1147 Missense Mutation AAG,CAG K320Q NP_115498.2
NM_183040.2 1147 Intron NP_898861.1
XM_005249447.4 1147 Missense Mutation AAG,CAG K307Q XP_005249504.1
XM_011514936.2 1147 Missense Mutation AAG,CAG K290Q XP_011513238.1
XM_011514937.2 1147 Missense Mutation AAG,CAG K164Q XP_011513239.1
XM_017011348.1 1147 Missense Mutation AAG,CAG K170Q XP_016866837.1
XM_017011349.1 1147 Missense Mutation AAG,CAG K169Q 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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