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GTCACCCTGTTGGGGTTTAGCGAAC[G/A]GCCAGCAATCACAACAGCGGTACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 107300 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SERPINC1 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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SERPINC1 - serpin family C member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000488.3 | 1392 | Missense Mutation | CGT,TGT | R,C 425 | NP_000479.1 | |
XM_005245198.3 | 1392 | Missense Mutation | CGT,TGT | R,C 377 | XP_005245255.1 |