Product Details

SNP ID
rs200830140
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8445761 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGAATTCCAGGAAGGAAGCAGAG[A/G]ATTAGAAGCAGAGTTGGAGGCACAA
Phenotype
MIM: 607538
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NDEL1 PubMed Links

Gene Details

Gene
NDEL1
Gene Name
nudE neurodevelopment protein 1 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001025579.2 523 Missense Mutation GAA,GGA E46G NP_001020750.1
NM_030808.4 523 Missense Mutation GAA,GGA E46G NP_110435.1
XM_011524013.1 523 Missense Mutation GAA,GGA E46G XP_011522315.1
XM_017025183.1 523 Missense Mutation GAA,GGA E59G XP_016880672.1
XM_017025184.1 523 Missense Mutation GAA,GGA E59G XP_016880673.1
XM_017025185.1 523 Missense Mutation GAA,GGA E46G XP_016880674.1
XM_017025186.1 523 Missense Mutation GAA,GGA E59G XP_016880675.1
XM_017025187.1 523 Missense Mutation GAA,GGA E46G XP_016880676.1
XM_017025188.1 523 Missense Mutation GAA,GGA E59G XP_016880677.1

View Full Product Details