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CGAGCAGTGGCATAGGGTATGTCTG[C/T]AACAGGGTCCCGGTATAGGGCTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 608095 MIM: 605834 MIM: 600607 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCNM1 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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SCNM1 - sodium channel modifier 1 | ||||||
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There are no transcripts associated with this gene. |
TMOD4 - tropomodulin 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013353.2 | 1008 | Intron | NP_037485.2 | |||
XM_011509449.1 | 1008 | Intron | XP_011507751.1 | |||
XM_017001089.1 | 1008 | Intron | XP_016856578.1 | |||
XM_017001090.1 | 1008 | Intron | XP_016856579.1 |
TNFAIP8L2-SCNM1 - TNFAIP8L2-SCNM1 readthrough | ||||||
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There are no transcripts associated with this gene. |
VPS72 - vacuolar protein sorting 72 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271087.1 | 1008 | Missense Mutation | ACA,GCA | T,A 317 | NP_001258016.1 | |
NM_001271088.1 | 1008 | UTR 3 | NP_001258017.1 | |||
NM_005997.2 | 1008 | Missense Mutation | ACA,GCA | T,A 306 | NP_005988.1 | |
XM_017002205.1 | 1008 | Missense Mutation | ACA,GCA | T,A 185 | XP_016857694.1 |