Product Details

SNP ID
rs201882524
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8289585 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTCTTGCTTACCTTCAATCAGC[C/T]CCCGTAAGGAGGAAGGAACGGGCGG
Phenotype
MIM: 607954 MIM: 610818
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
RANGRF PubMed Links

Gene Details

Gene
RANGRF
Gene Name
RAN guanine nucleotide release factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177801.1 572 Missense Mutation CCC,CTC P145L NP_001171272.1
NM_001177802.1 572 UTR 3 NP_001171273.1
NM_016492.4 572 Missense Mutation CCC,CTC P145L NP_057576.2
XM_005256618.4 572 Intron XP_005256675.1
Gene
SLC25A35
Gene Name
solute carrier family 25 member 35
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320870.1 572 Intron NP_001307799.1
NM_001320871.1 572 UTR 3 NP_001307800.1
NM_001320872.1 572 UTR 3 NP_001307801.1
NM_001320877.1 572 Intron NP_001307806.1
NM_201520.2 572 UTR 3 NP_958928.1
XM_005256641.2 572 Intron XP_005256698.1
XM_011523846.1 572 UTR 3 XP_011522148.1
XM_017024633.1 572 Intron XP_016880122.1
XM_017024634.1 572 Intron XP_016880123.1

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