Product Details

SNP ID
rs200615633
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8289579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACTGATCTCTTGCTTACCTTCA[A/G]TCAGCCCCCGTAAGGAGGAAGGAAC
Phenotype
MIM: 607954 MIM: 610818
Polymorphism
A/G, 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_001177801.1 566 Missense Mutation AAT,AGT N143S NP_001171272.1
NM_001177802.1 566 UTR 3 NP_001171273.1
NM_016492.4 566 Missense Mutation AAT,AGT N143S NP_057576.2
XM_005256618.4 566 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_001320870.1 566 Intron NP_001307799.1
NM_001320871.1 566 UTR 3 NP_001307800.1
NM_001320872.1 566 UTR 3 NP_001307801.1
NM_001320877.1 566 Intron NP_001307806.1
NM_201520.2 566 UTR 3 NP_958928.1
XM_005256641.2 566 Intron XP_005256698.1
XM_011523846.1 566 UTR 3 XP_011522148.1
XM_017024633.1 566 Intron XP_016880122.1
XM_017024634.1 566 Intron XP_016880123.1

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