Product Details

SNP ID
rs142184479
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:177458387 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGGAGTGTGGAGGCCCCTTCCC[C/T]GTTGCCAGGCCATAGGTCAATGAGG
Phenotype
MIM: 126660
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DBN1 PubMed Links

Gene Details

Gene
DBN1
Gene Name
drebrin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004395.3 1735 Missense Mutation AGG,GGG R483G NP_004386.2
NM_080881.2 1735 Missense Mutation AGG,GGG R485G NP_543157.1
XM_005265827.3 1735 Missense Mutation AGG,GGG R529G XP_005265884.1
XM_006714826.2 1735 Missense Mutation AGG,GGG R466G XP_006714889.1
XM_011534446.2 1735 Missense Mutation AGG,GGG R531G XP_011532748.1
XM_011534447.2 1735 Missense Mutation AGG,GGG R518G XP_011532749.1
XM_017009139.1 1735 Missense Mutation AGG,GGG R531G XP_016864628.1
XM_017009140.1 1735 Missense Mutation AGG,GGG R485G XP_016864629.1
Gene
PRR7
Gene Name
proline rich 7 (synaptic)
There are no transcripts associated with this gene.

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