Product Details
- SNP ID
-
rs11549702
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:125207639 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTGTTCATATTTACCCCCAGTTGG[C/T]AATGCCAAGAGAGGGAAGGTCTTCA
- Phenotype
-
MIM: 605962
- Polymorphism
- C/T, Transition 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 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
NP_001167623.1 |
| NM_001174153.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
NP_001167624.1 |
| NM_005833.3 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
NP_005824.2 |
| XM_005251640.4 |
458 |
Silent Mutation |
GGC,GGT |
G51G |
XP_005251697.1 |
| XM_005251641.4 |
458 |
Silent Mutation |
GGC,GGT |
G51G |
XP_005251698.1 |
| XM_005251642.4 |
458 |
Silent Mutation |
GGC,GGT |
G51G |
XP_005251699.1 |
| XM_005251644.4 |
458 |
Silent Mutation |
GGC,GGT |
G51G |
XP_005251701.1 |
| XM_011518120.2 |
458 |
Silent Mutation |
GGC,GGT |
G51G |
XP_011516422.1 |
| XM_017014177.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869666.1 |
| XM_017014178.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869667.1 |
| XM_017014179.1 |
458 |
UTR 5 |
|
|
XP_016869668.1 |
| XM_017014180.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869669.1 |
| XM_017014181.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869670.1 |
| XM_017014182.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869671.1 |
| XM_017014183.1 |
458 |
Silent Mutation |
GGC,GGT |
G43G |
XP_016869672.1 |
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