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TCTAGGGGTGCTCAGTGTCTGTGCA[A/G]CCAGCGGCCATGGGTCCGTAGCGGA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 220 | Missense Mutation | ACC,GCC | T,A 21 | NP_001271123.1 | |
NM_173540.2 | 220 | Missense Mutation | ACC,GCC | T,A 21 | NP_775811.2 | |
XM_006717656.3 | 220 | Missense Mutation | ACC,GCC | T,A 21 | 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 | 220 | Intron | NP_004913.2 | |||
NM_198597.2 | 220 | Intron | NP_940999.1 | |||
XM_011540380.2 | 220 | Intron | XP_011538682.1 | |||
XM_011540381.2 | 220 | Intron | XP_011538683.1 | |||
XM_017016967.1 | 220 | Intron | XP_016872456.1 | |||
XM_017016968.1 | 220 | Intron | XP_016872457.1 |