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GGTAGGGGTGGGCGTTGGAGCAGAA[A/G]GGTCAGGAAGCAGGGGGTGGAGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603475 MIM: 606023 MIM: 600044 | ||||||||||||||||||||
Literature Links: |
CHRD 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 |
CHRD - chordin | ||||||
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There are no transcripts associated with this gene. |
POLR2H - RNA polymerase II subunit H | ||||||
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There are no transcripts associated with this gene. |
THPO - thrombopoietin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000460.3 | 1259 | Missense Mutation | CCT,CTT | P,L 327 | NP_000451.1 | |
NM_001177597.2 | 1259 | Missense Mutation | CCT,CTT | P,L 323 | NP_001171068.1 | |
NM_001177598.2 | 1259 | UTR 3 | NP_001171069.1 | |||
NM_001289997.1 | 1259 | UTR 3 | NP_001276926.1 | |||
NM_001289998.1 | 1259 | Missense Mutation | CCT,CTT | P,L 327 | NP_001276927.1 | |
NM_001290003.1 | 1259 | Missense Mutation | CCT,CTT | P,L 467 | NP_001276932.1 | |
NM_001290022.1 | 1259 | Missense Mutation | CCT,CTT | P,L 323 | NP_001276951.1 | |
NM_001290026.1 | 1259 | UTR 3 | NP_001276955.1 | |||
NM_001290027.1 | 1259 | UTR 3 | NP_001276956.1 | |||
NM_001290028.1 | 1259 | Missense Mutation | CCT,CTT | P,L 327 | NP_001276957.1 | |
XM_017007107.1 | 1259 | UTR 3 | XP_016862596.1 |