Product Details

SNP ID
rs201451876
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:60599131 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAGTTTGGCATCTGTTATGACTT[C/T]CTCCAACAAGGCTGCCAGAGGTTCC
Phenotype
MIM: 616073
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DEPDC1B PubMed Links

Gene Details

Gene
DEPDC1B
Gene Name
DEP domain containing 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145208.1 1438 Intron NP_001138680.1
NM_018369.2 1438 Missense Mutation AAA,GAA K458E NP_060839.2
XM_011543509.2 1438 Missense Mutation AAA,GAA K443E XP_011541811.1
XM_011543510.2 1438 Intron XP_011541812.1
XM_017009629.1 1438 Intron XP_016865118.1

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