Product Details

SNP ID
rs140704891
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8289059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGCTGCAGGCCCACGTACGGGGC[G/T]AAGCGGCTGCGCGGTGAGGGAATGG
Phenotype
MIM: 607954 MIM: 610818
Polymorphism
G/T, Transversion 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_001177801.1 319 Nonsense Mutation GAA,TAA E61* NP_001171272.1
NM_001177802.1 319 Nonsense Mutation GAA,TAA E61* NP_001171273.1
NM_016492.4 319 Nonsense Mutation GAA,TAA E61* NP_057576.2
XM_005256618.4 319 Nonsense Mutation GAA,TAA E61* 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_001320870.1 319 Intron NP_001307799.1
NM_001320871.1 319 Intron NP_001307800.1
NM_001320872.1 319 UTR 3 NP_001307801.1
NM_001320877.1 319 Intron NP_001307806.1
NM_201520.2 319 UTR 3 NP_958928.1
XM_005256641.2 319 Intron XP_005256698.1
XM_011523846.1 319 Intron XP_011522148.1
XM_017024633.1 319 Intron XP_016880122.1
XM_017024634.1 319 Intron XP_016880123.1

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