Product Details

SNP ID
rs11716116
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:19948012 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTCAATGTGGGGAGCTCCGCCTA[C/T]CTTCAACTTCCAAAGATGAGTAGTG
Phenotype
MIM: 179512
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EFHB PubMed Links

Gene Details

Gene
EFHB
Gene Name
EF-hand domain family member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144715.3 Intron NP_653316.3
XM_005264889.1 Intron XP_005264946.1
XM_011533382.1 Intron XP_011531684.1
XM_011533383.2 Intron XP_011531685.2
XM_011533385.2 Intron XP_011531687.1
XM_017005741.1 Intron XP_016861230.1
XM_017005742.1 Intron XP_016861231.1
XM_017005743.1 Intron XP_016861232.1
XM_017005744.1 Intron XP_016861233.1
XM_017005745.1 Intron XP_016861234.1
Gene
RAB5A
Gene Name
RAB5A, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001292048.1 Intron NP_001278977.1
NM_004162.4 Intron NP_004153.2

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