Product Details

SNP ID
rs151189313
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8289515 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGATCCCCTTAGGTAGCAAAGGAC[A/G]TGACACTTCATCAGGCCTTGCTGAG
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_001177801.1 502 Missense Mutation ATG,GTG M122V NP_001171272.1
NM_001177802.1 502 Missense Mutation CAT,CGT H151R NP_001171273.1
NM_016492.4 502 Missense Mutation ATG,GTG M122V NP_057576.2
XM_005256618.4 502 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_001320870.1 502 Intron NP_001307799.1
NM_001320871.1 502 Intron NP_001307800.1
NM_001320872.1 502 Intron NP_001307801.1
NM_001320877.1 502 Intron NP_001307806.1
NM_201520.2 502 UTR 3 NP_958928.1
XM_005256641.2 502 Intron XP_005256698.1
XM_011523846.1 502 Intron XP_011522148.1
XM_017024633.1 502 Intron XP_016880122.1
XM_017024634.1 502 Intron XP_016880123.1

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