Product Details

SNP ID
rs200307958
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:158904530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTACTCATTCTCCTTATGTGGCT[C/T]AAATACTCTTATAAGCTAAAGCTCA
Phenotype
MIM: 612768
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C4orf45 PubMed Links

Gene Details

Gene
C4orf45
Gene Name
chromosome 4 open reading frame 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152543.2 3549 Intron NP_689756.2
XM_011531671.2 3549 Intron XP_011529973.1
XM_011531672.2 3549 Intron XP_011529974.1
XM_017007808.1 3549 Intron XP_016863297.1
XM_017007809.1 3549 Intron XP_016863298.1
XM_017007810.1 3549 Intron XP_016863299.1
Gene
FNIP2
Gene Name
folliculin interacting protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323916.1 3549 Nonsense Mutation CAA,TAA Q1134* NP_001310845.1
NM_020840.2 3549 Nonsense Mutation CAA,TAA Q1111* NP_065891.1
XM_005263156.1 3549 Nonsense Mutation CAA,TAA Q1164* XP_005263213.1
XM_005263158.1 3549 Nonsense Mutation CAA,TAA Q1141* XP_005263215.1
XM_005263160.3 3549 Intron XP_005263217.1
XM_011532154.2 3549 Nonsense Mutation CAA,TAA Q1109* XP_011530456.1
XM_017008487.1 3549 Nonsense Mutation CAA,TAA Q1147* XP_016863976.1

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