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TTTCATGGTTGTCCTTCCTCCAAAC[C/T]GTAAGTTGACTGAGGACACTGAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611549 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NALCN 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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NALCN - sodium leak channel, non-selective | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_052867.2 | 4396 | Missense Mutation | CAG,CGG | Q,R 1689 | NP_443099.1 | |
XM_011521067.2 | 4396 | Missense Mutation | CAG,CGG | Q,R 1708 | XP_011519369.1 | |
XM_011521068.2 | 4396 | Missense Mutation | CAG,CGG | Q,R 1689 | XP_011519370.1 | |
XM_011521069.2 | 4396 | Missense Mutation | CAG,CGG | Q,R 1679 | XP_011519371.1 | |
XM_017020534.1 | 4396 | Missense Mutation | CAG,CGG | Q,R 1660 | XP_016876023.1 | |
XM_017020535.1 | 4396 | Missense Mutation | CAG,CGG | Q,R 1660 | XP_016876024.1 | |
XM_017020536.1 | 4396 | Missense Mutation | CAG,CGG | Q,R 1540 | XP_016876025.1 | |
XM_017020537.1 | 4396 | Missense Mutation | CAG,CGG | Q,R 1434 | XP_016876026.1 |
NALCN-AS1 - NALCN antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |