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ATGTAGTCTCCCTGAATGGTATGGC[A/G]TTGGCTCTCCACATACCTAAAGTAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
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Phenotype: |
MIM: 613039 MIM: 603957 | ||||||||||||||||||||
Literature Links: |
CHD1L 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 |
CHD1L - chromodomain helicase DNA binding protein 1 like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256336.1 | 1363 | Intron | NP_001243265.1 | |||
NM_001256337.1 | 1363 | Intron | NP_001243266.1 | |||
NM_001256338.1 | 1363 | Intron | NP_001243267.1 | |||
NM_004284.4 | 1363 | Intron | NP_004275.4 | |||
NM_024568.2 | 1363 | Intron | NP_078844.2 | |||
XM_006711639.3 | 1363 | Intron | XP_006711702.1 | |||
XM_017002858.1 | 1363 | Intron | XP_016858347.1 | |||
XM_017002859.1 | 1363 | Intron | XP_016858348.1 | |||
XM_017002860.1 | 1363 | Intron | XP_016858349.1 | |||
XM_017002861.1 | 1363 | Intron | XP_016858350.1 | |||
XM_017002862.1 | 1363 | Intron | XP_016858351.1 | |||
XM_017002863.1 | 1363 | Intron | XP_016858352.1 | |||
XM_017002864.1 | 1363 | Intron | XP_016858353.1 |
FMO5 - flavin containing monooxygenase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144829.2 | 1363 | Intron | NP_001138301.1 | |||
NM_001144830.2 | 1363 | UTR 3 | NP_001138302.1 | |||
NM_001461.3 | 1363 | Missense Mutation | CGC,TGC | R,C 425 | NP_001452.2 | |
XM_005272946.4 | 1363 | Missense Mutation | CGC,TGC | R,C 425 | XP_005273003.1 | |
XM_005272947.4 | 1363 | Missense Mutation | CGC,TGC | R,C 425 | XP_005273004.1 | |
XM_005272948.4 | 1363 | Missense Mutation | CGC,TGC | R,C 425 | XP_005273005.1 | |
XM_006711244.3 | 1363 | Intron | XP_006711307.1 | |||
XM_006711245.3 | 1363 | UTR 3 | XP_006711308.1 | |||
XM_011509350.2 | 1363 | Missense Mutation | CGC,TGC | R,C 425 | XP_011507652.1 | |
XM_011509351.2 | 1363 | Missense Mutation | CGC,TGC | R,C 362 | XP_011507653.1 | |
XM_017000801.1 | 1363 | Missense Mutation | CGC,TGC | R,C 362 | XP_016856290.1 | |
XM_017000802.1 | 1363 | Missense Mutation | CGC,TGC | R,C 362 | XP_016856291.1 |
PDIA3P1 - protein disulfide isomerase family A member 3 pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |