Product Details

SNP ID
rs149958174
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8289069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCACGTACGGGGCGAAGCGGCTG[A/C]GCGGTGAGGGAATGGCCCCCGGCTG
Phenotype
MIM: 607954 MIM: 610818
Polymorphism
A/C, 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_001177801.1 329 Missense Mutation GAG,GCG E64A NP_001171272.1
NM_001177802.1 329 Missense Mutation GAG,GCG E64A NP_001171273.1
NM_016492.4 329 Missense Mutation GAG,GCG E64A NP_057576.2
XM_005256618.4 329 Missense Mutation GAG,GCG E64A 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_001320870.1 329 Intron NP_001307799.1
NM_001320871.1 329 Intron NP_001307800.1
NM_001320872.1 329 UTR 3 NP_001307801.1
NM_001320877.1 329 Intron NP_001307806.1
NM_201520.2 329 UTR 3 NP_958928.1
XM_005256641.2 329 Intron XP_005256698.1
XM_011523846.1 329 Intron XP_011522148.1
XM_017024633.1 329 Intron XP_016880122.1
XM_017024634.1 329 Intron XP_016880123.1

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