Product Details

SNP ID
rs140016697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8288863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCCCCATGGGGGCCATTGACGT[A/T]AGGTGAGAAGGCCGGGGCGCCCAGG
Phenotype
MIM: 607954 MIM: 610818
Polymorphism
A/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_001177801.1 213 Silent Mutation GTA,GTT V25V NP_001171272.1
NM_001177802.1 213 Silent Mutation GTA,GTT V25V NP_001171273.1
NM_016492.4 213 Silent Mutation GTA,GTT V25V NP_057576.2
XM_005256618.4 213 Silent Mutation GTA,GTT V25V 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_001320870.1 213 Intron NP_001307799.1
NM_001320871.1 213 Intron NP_001307800.1
NM_001320872.1 213 UTR 3 NP_001307801.1
NM_001320877.1 213 Intron NP_001307806.1
NM_201520.2 213 UTR 3 NP_958928.1
XM_005256641.2 213 Intron XP_005256698.1
XM_011523846.1 213 Intron XP_011522148.1
XM_017024633.1 213 Intron XP_016880122.1
XM_017024634.1 213 Intron XP_016880123.1

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