Product Details

SNP ID
rs76616545
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:123472010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCTGTGGCTTTGTGTCTGAGTTG[C/G]GCTACTGAGCCTGTGACTTCAGACC
Phenotype
MIM: 614092
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RILPL1 PubMed Links

Gene Details

Gene
RILPL1
Gene Name
Rab interacting lysosomal protein like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319243.1 1525 UTR 3 NP_001306172.1
NM_001319244.1 1525 UTR 3 NP_001306173.1
NM_001319302.1 1525 UTR 3 NP_001306231.1
NM_178314.4 1525 UTR 3 NP_847884.2
XM_006719372.2 1525 Intron XP_006719435.1
XM_006719373.3 1525 Intron XP_006719436.1
XM_011538282.2 1525 Intron XP_011536584.1
XM_011538284.2 1525 Intron XP_011536586.1
XM_011538285.2 1525 Intron XP_011536587.1
Gene
SNRNP35
Gene Name
small nuclear ribonucleoprotein U11/U12 subunit 35
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022717.3 1525 Intron NP_073208.1
NM_180699.3 1525 Intron NP_851030.1
XM_006719204.3 1525 Intron XP_006719267.1
XM_011537780.2 1525 Intron XP_011536082.1
XM_017018724.1 1525 Intron XP_016874213.1

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