Product Details

SNP ID
rs55938451
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:125207650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCCCCAGTTGGTAATGCCAAGA[C/G]AGGGAAGGTCTTCATTGTTGGGGGA
Phenotype
MIM: 605962
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
LOC105376271 PubMed Links

Gene Details

Gene
LOC105376271
Gene Name
uncharacterized LOC105376271
There are no transcripts associated with this gene.

Gene
RABEPK
Gene Name
Rab9 effector protein with kelch motifs
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001174152.1 469 Missense Mutation ACA,AGA T47R NP_001167623.1
NM_001174153.1 469 Missense Mutation ACA,AGA T47R NP_001167624.1
NM_005833.3 469 Missense Mutation ACA,AGA T47R NP_005824.2
XM_005251640.4 469 Missense Mutation ACA,AGA T55R XP_005251697.1
XM_005251641.4 469 Missense Mutation ACA,AGA T55R XP_005251698.1
XM_005251642.4 469 Missense Mutation ACA,AGA T55R XP_005251699.1
XM_005251644.4 469 Missense Mutation ACA,AGA T55R XP_005251701.1
XM_011518120.2 469 Missense Mutation ACA,AGA T55R XP_011516422.1
XM_017014177.1 469 Missense Mutation ACA,AGA T47R XP_016869666.1
XM_017014178.1 469 Missense Mutation ACA,AGA T47R XP_016869667.1
XM_017014179.1 469 UTR 5 XP_016869668.1
XM_017014180.1 469 Missense Mutation ACA,AGA T47R XP_016869669.1
XM_017014181.1 469 Missense Mutation ACA,AGA T47R XP_016869670.1
XM_017014182.1 469 Missense Mutation ACA,AGA T47R XP_016869671.1
XM_017014183.1 469 Missense Mutation ACA,AGA T47R XP_016869672.1

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