Product Details

SNP ID
rs117322147
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:117562520 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGTACTGCGCACACAGATCAAC[A/T]TAATTGAGAACAGATGTTTTACACT
Phenotype
MIM: 606845
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DCBLD1 PubMed Links

Gene Details

Gene
DCBLD1
Gene Name
discoidin, CUB and LCCL domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173674.2 2377 Intron NP_775945.1
XM_005266941.1 2377 Intron XP_005266998.1
XM_006715463.1 2377 Intron XP_006715526.1
XM_011535771.1 2377 Intron XP_011534073.1
XM_011535773.2 2377 Intron XP_011534075.1
XM_011535774.2 2377 Intron XP_011534076.1
XM_017010775.1 2377 Intron XP_016866264.1
Gene
GOPC
Gene Name
golgi associated PDZ and coiled-coil motif containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017408.2 2377 UTR 3 NP_001017408.1
NM_020399.3 2377 UTR 3 NP_065132.1

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