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GGCGGCCGGCCCCATTAGGGTGGTG[G/T]TGGTCCTTCTAGGGGTGCTCAGTGT
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 | 187 | Silent Mutation | GTG,TTG | V,L 10 | NP_001271123.1 | |
NM_173540.2 | 187 | Silent Mutation | GTG,TTG | V,L 10 | NP_775811.2 | |
XM_006717656.3 | 187 | Missense Mutation | GTG,TTG | V,L 10 | XP_006717719.1 |
SEC24C - SEC24 homolog C, COPII coat complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004922.3 | 187 | Intron | NP_004913.2 | |||
NM_198597.2 | 187 | Intron | NP_940999.1 | |||
XM_011540380.2 | 187 | Intron | XP_011538682.1 | |||
XM_011540381.2 | 187 | Intron | XP_011538683.1 | |||
XM_017016967.1 | 187 | Intron | XP_016872456.1 | |||
XM_017016968.1 | 187 | Intron | XP_016872457.1 |