Product Details

SNP ID
rs200700767
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:53772420 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCTTAATGTTTTATATGAAGTGT[C/T]CACAAGGCTTCCTGAAATCCGGGGT
Phenotype
MIM: 610115
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDC1 PubMed Links

Gene Details

Gene
NDC1
Gene Name
NDC1 transmembrane nucleoporin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168551.1 2161 Missense Mutation AAC,GAC N584D NP_001162023.1
NM_018087.4 2161 Missense Mutation AAC,GAC N624D NP_060557.3
XM_011541766.2 2161 Missense Mutation AAC,GAC N623D XP_011540068.1

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