Product Details

SNP ID
rs138246789
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:149731646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAGTGACGACTTTTCAGGTACAT[C/T]TGTGGAAGCATCCCAGTGCCAGAGG
Phenotype
MIM: 608141
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUP43 PubMed Links

Gene Details

Gene
NUP43
Gene Name
nucleoporin 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198887.2 957 Missense Mutation AAT,GAT N294D NP_942590.1
XM_005266960.4 957 Missense Mutation AAT,GAT N294D XP_005267017.1
XM_005266961.3 957 Missense Mutation AAT,GAT N294D XP_005267018.1
XM_005266962.3 957 Missense Mutation AAT,GAT N294D XP_005267019.1
XM_011535798.2 957 Missense Mutation AAT,GAT N294D XP_011534100.1
XM_011535799.2 957 Missense Mutation AAT,GAT N294D XP_011534101.1

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