Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTAGAAGATGATTTAAGTCAGACT[C/T]GGGCCATTAAGGAGCAGTTGCATAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607538 | ||||||||||||||||||||
Literature Links: |
NDEL1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
NDEL1 - nudE neurodevelopment protein 1 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001025579.2 | 699 | Missense Mutation | CGG,TGG | R,W 105 | NP_001020750.1 | |
NM_030808.4 | 699 | Missense Mutation | CGG,TGG | R,W 105 | NP_110435.1 | |
XM_011524013.1 | 699 | Missense Mutation | CGG,TGG | R,W 105 | XP_011522315.1 | |
XM_017025183.1 | 699 | Missense Mutation | CGG,TGG | R,W 118 | XP_016880672.1 | |
XM_017025184.1 | 699 | Missense Mutation | CGG,TGG | R,W 118 | XP_016880673.1 | |
XM_017025185.1 | 699 | Missense Mutation | CGG,TGG | R,W 105 | XP_016880674.1 | |
XM_017025186.1 | 699 | Missense Mutation | CGG,TGG | R,W 118 | XP_016880675.1 | |
XM_017025187.1 | 699 | Missense Mutation | CGG,TGG | R,W 105 | XP_016880676.1 | |
XM_017025188.1 | 699 | Missense Mutation | CGG,TGG | R,W 118 | XP_016880677.1 |