Product Details

SNP ID
rs13302273
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:125207586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGTACACCTTGACTGTCCCTGGA[A/G]ACAGCCCCTGTGCTCGAGTTGGCCA
Phenotype
MIM: 605962
Polymorphism
A/G, 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_001174152.1 405 Missense Mutation AAC,GAC N26D NP_001167623.1
NM_001174153.1 405 Missense Mutation AAC,GAC N26D NP_001167624.1
NM_005833.3 405 Missense Mutation AAC,GAC N26D NP_005824.2
XM_005251640.4 405 Missense Mutation AAC,GAC N34D XP_005251697.1
XM_005251641.4 405 Missense Mutation AAC,GAC N34D XP_005251698.1
XM_005251642.4 405 Missense Mutation AAC,GAC N34D XP_005251699.1
XM_005251644.4 405 Missense Mutation AAC,GAC N34D XP_005251701.1
XM_011518120.2 405 Missense Mutation AAC,GAC N34D XP_011516422.1
XM_017014177.1 405 Missense Mutation AAC,GAC N26D XP_016869666.1
XM_017014178.1 405 Missense Mutation AAC,GAC N26D XP_016869667.1
XM_017014179.1 405 UTR 5 XP_016869668.1
XM_017014180.1 405 Missense Mutation AAC,GAC N26D XP_016869669.1
XM_017014181.1 405 Missense Mutation AAC,GAC N26D XP_016869670.1
XM_017014182.1 405 Missense Mutation AAC,GAC N26D XP_016869671.1
XM_017014183.1 405 Missense Mutation AAC,GAC N26D XP_016869672.1

View Full Product Details