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ATCTTCAAGCTCTGTTCTGCATACA[C/T]GACTTGAACACATCTGGCTGATCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300350 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHRDL1 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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CHRDL1 - chordin like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143981.1 | 1455 | Missense Mutation | CAT,CGT | H,R 435 | NP_001137453.1 | |
NM_001143982.1 | 1455 | Missense Mutation | CAT,CGT | H,R 434 | NP_001137454.1 | |
NM_001143983.2 | 1455 | Missense Mutation | CAT,CGT | H,R 355 | NP_001137455.2 | |
NM_145234.3 | 1455 | Missense Mutation | CAT,CGT | H,R 433 | NP_660277.2 | |
XM_005262221.1 | 1455 | Missense Mutation | CAT,CGT | H,R 435 | XP_005262278.1 | |
XM_005262222.3 | 1455 | Missense Mutation | CAT,CGT | H,R 434 | XP_005262279.1 | |
XM_005262223.1 | 1455 | Missense Mutation | CAT,CGT | H,R 430 | XP_005262280.1 | |
XM_005262224.1 | 1455 | Missense Mutation | CAT,CGT | H,R 429 | XP_005262281.1 | |
XM_017029959.1 | 1455 | Missense Mutation | CAT,CGT | H,R 430 | XP_016885448.1 |