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CGTCCAGCCAGAGGCCTCGGACACC[C/T]ACATCCTCCTCCTGGAAGGCTTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608705 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NMRK2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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NMRK2 - nicotinamide riboside kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289117.1 | 588 | Missense Mutation | CAC,TAC | H,Y 100 | NP_001276046.1 | |
NM_170678.2 | 588 | Missense Mutation | CAC,TAC | H,Y 95 | NP_733778.1 | |
XM_006722725.3 | 588 | Missense Mutation | CAC,TAC | H,Y 100 | XP_006722788.1 | |
XM_006722726.3 | 588 | Missense Mutation | CAC,TAC | H,Y 100 | XP_006722789.1 | |
XM_017026597.1 | 588 | Missense Mutation | CAC,TAC | H,Y 95 | XP_016882086.1 |