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GGTATGAGGGTAGAAGCGTCGGGTA[C/G]AACGCAGACTGGGGTGGAAGCGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603277 MIM: 610495 MIM: 164031 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHD4 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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CHD4 - chromodomain helicase DNA binding protein 4 | ||||||
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There are no transcripts associated with this gene. |
IFFO1 - intermediate filament family orphan 1 | ||||||
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There are no transcripts associated with this gene. |
NOP2 - NOP2 nucleolar protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033714.2 | 1812 | Missense Mutation | TCT,TGT | S,C 561 | NP_001028886.1 | |
NM_001258308.1 | 1812 | Missense Mutation | TCT,TGT | S,C 565 | NP_001245237.1 | |
NM_001258309.1 | 1812 | Missense Mutation | TCT,TGT | S,C 598 | NP_001245238.1 | |
NM_001258310.1 | 1812 | Missense Mutation | TCT,TGT | S,C 561 | NP_001245239.1 | |
NM_006170.3 | 1812 | Missense Mutation | TCT,TGT | S,C 561 | NP_006161.2 | |
XM_005253691.1 | 1812 | Missense Mutation | TCT,TGT | S,C 565 | XP_005253748.1 |