Product Details

SNP ID
rs140218685
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12955480 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCCAGACACATAGTGGATCTGT[A/G]TGGCGTGTGACATGGGCCCATCCTG
Phenotype
MIM: 609263
Polymorphism
A/G, Transition 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_001013437.1 488 Silent Mutation GTA,GTG V60V NP_001013455.1
NM_031216.3 488 Silent Mutation GTA,GTG V60V NP_112493.2
XM_005258152.4 488 Intron XP_005258209.1
XM_011525742.2 488 Silent Mutation GTA,GTG V60V XP_011524044.1
XM_011525743.2 488 Intron XP_011524045.1
XM_011525744.1 488 Silent Mutation GTA,GTG V60V XP_011524046.1
XM_011525745.2 488 Intron XP_011524047.1
XM_011525746.2 488 UTR 5 XP_011524048.1
XM_017026025.1 488 Intron XP_016881514.1
XM_017026026.1 488 Intron XP_016881515.1
XM_017026027.1 488 UTR 5 XP_016881516.1

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