Product Details

SNP ID
rs199828651
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12955533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGGCAGGTTTTGGCTTCCTGTT[C/G]TTTTGACCGAACAGCTGCTGTATGG
Phenotype
MIM: 609263
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SEH1L PubMed Links

Gene Details

Gene
SEH1L
Gene Name
SEH1 like nucleoporin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013437.1 541 Missense Mutation TCT,TGT S78C NP_001013455.1
NM_031216.3 541 Missense Mutation TCT,TGT S78C NP_112493.2
XM_005258152.4 541 Intron XP_005258209.1
XM_011525742.2 541 Missense Mutation TCT,TGT S78C XP_011524044.1
XM_011525743.2 541 Intron XP_011524045.1
XM_011525744.1 541 Missense Mutation TCT,TGT S78C XP_011524046.1
XM_011525745.2 541 Intron XP_011524047.1
XM_011525746.2 541 UTR 5 XP_011524048.1
XM_017026025.1 541 Intron XP_016881514.1
XM_017026026.1 541 Intron XP_016881515.1
XM_017026027.1 541 UTR 5 XP_016881516.1

View Full Product Details