Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCGTGCAGGCCTGGCTGAGCAGCC[C/T]GCAGAAGTTTGCCCGTGCCCACGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608705 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NMRK2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
NMRK2 - nicotinamide riboside kinase 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289117.1 | 532 | Missense Mutation | CCG,CTG | P,L 81 | NP_001276046.1 | |
NM_170678.2 | 532 | Missense Mutation | CCG,CTG | P,L 76 | NP_733778.1 | |
XM_006722725.3 | 532 | Missense Mutation | CCG,CTG | P,L 81 | XP_006722788.1 | |
XM_006722726.3 | 532 | Missense Mutation | CCG,CTG | P,L 81 | XP_006722789.1 | |
XM_017026597.1 | 532 | Missense Mutation | CCG,CTG | P,L 76 | XP_016882086.1 |