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AGTTCGAAGCTCATCTTCTTTATTG[A/T]TCATCATCGAAGCAATTGCACCATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615787 MIM: 601436 | ||||||||||||||||||||
Literature Links: |
NADK2 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 |
NADK2 - NAD kinase 2, mitochondrial | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001085411.2 | 1236 | Missense Mutation | AAC,ATC | N,I 429 | NP_001078880.1 | |
NM_001287340.1 | 1236 | Missense Mutation | AAC,ATC | N,I 266 | NP_001274269.1 | |
NM_001287341.1 | 1236 | Missense Mutation | AAC,ATC | N,I 288 | NP_001274270.1 | |
NM_153013.4 | 1236 | Missense Mutation | AAC,ATC | N,I 266 | NP_694558.1 | |
XM_005248241.4 | 1236 | Missense Mutation | AAC,ATC | N,I 451 | XP_005248298.1 |
SKP2 - S-phase kinase-associated protein 2, E3 ubiquitin protein ligase | ||||||
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There are no transcripts associated with this gene. |