Product Details

SNP ID
rs117978838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:12951879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTGGGATAAAAGTGAAAGTGGT[A/G]ATTGGCATTGTACTGCTAGCTGGAA
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_001013437.1 444 Missense Mutation AAT,GAT N46D NP_001013455.1
NM_031216.3 444 Missense Mutation AAT,GAT N46D NP_112493.2
XM_005258152.4 444 Missense Mutation AAT,GAT N46D XP_005258209.1
XM_011525742.2 444 Missense Mutation AAT,GAT N46D XP_011524044.1
XM_011525743.2 444 Missense Mutation AAT,GAT N46D XP_011524045.1
XM_011525744.1 444 Missense Mutation AAT,GAT N46D XP_011524046.1
XM_011525745.2 444 UTR 5 XP_011524047.1
XM_011525746.2 444 UTR 5 XP_011524048.1
XM_017026025.1 444 Missense Mutation AAT,GAT N46D XP_016881514.1
XM_017026026.1 444 UTR 5 XP_016881515.1
XM_017026027.1 444 UTR 5 XP_016881516.1

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