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AATTGGCATGGTCCTCCTGGGGACC[C/T]GAGGAGCCACCGCTTCCCAGTTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604445 | ||||||||||||||||||||
Literature Links: |
SERPINB13 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 |
SERPINB13 - serpin family B member 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307923.1 | 304 | Nonsense Mutation | CGA,TGA | R,* 46 | NP_001294852.1 | |
NM_012397.3 | 304 | Nonsense Mutation | CGA,TGA | R,* 46 | NP_036529.1 | |
XM_005266707.3 | 304 | UTR 5 | XP_005266764.1 | |||
XM_011526029.2 | 304 | Nonsense Mutation | CGA,TGA | R,* 46 | XP_011524331.1 |