Product Details

SNP ID
rs1047620
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:15522913 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATAAAACAACCTGGCTTTCCAGG[G/T]GGAATTCCGCATACAGCCAAAACTG
Phenotype
MIM: 607145 MIM: 601594
Polymorphism
G/T, 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 1307 UTR 3 NP_001258596.1
NM_001271668.1 1307 UTR 3 NP_001258597.1
NM_001271669.1 1307 UTR 3 NP_001258598.1
NM_032122.4 1307 UTR 3 NP_115498.2
NM_183040.2 1307 Intron NP_898861.1
XM_005249447.4 1307 UTR 3 XP_005249504.1
XM_011514936.2 1307 UTR 3 XP_011513238.1
XM_011514937.2 1307 UTR 3 XP_011513239.1
XM_017011348.1 1307 UTR 3 XP_016866837.1
XM_017011349.1 1307 UTR 3 XP_016866838.1
Gene
JARID2
Gene Name
jumonji and AT-rich interaction domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267040.1 1307 Intron NP_001253969.1
NM_004973.3 1307 Intron NP_004964.2
XM_005249089.3 1307 Intron XP_005249146.1
XM_011514579.2 1307 Intron XP_011512881.1
XM_011514584.2 1307 Intron XP_011512886.1
XM_017010833.1 1307 Intron XP_016866322.1
XM_017010834.1 1307 Intron XP_016866323.1
XM_017010835.1 1307 Intron XP_016866324.1

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