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CTGCAGAATCGGGAGCTGCCTACCG[C/T]GCGGCTACAGGACACAGCCACGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608842 MIM: 616932 MIM: 607185 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHCHD1 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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CHCHD1 - coiled-coil-helix-coiled-coil-helix domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
FUT11 - fucosyltransferase 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284194.1 | 914 | Missense Mutation | GCG,GTG | A,V 252 | NP_001271123.1 | |
NM_173540.2 | 914 | Missense Mutation | GCG,GTG | A,V 252 | NP_775811.2 | |
XM_006717656.3 | 914 | Missense Mutation | GCG,GTG | A,V 252 | XP_006717719.1 |
SEC24C - SEC24 homolog C, COPII coat complex component | ||||||
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There are no transcripts associated with this gene. |