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CACAGGTAGCTTGCGTCCGGAGTCT[C/T]AGGATCACAGGTTAAGCTCACAGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 176397 | ||||||||||||||||||||
Literature Links: |
PSG8 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 |
PSG8 - pregnancy specific beta-1-glycoprotein 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130167.1 | 612 | Missense Mutation | AAG,GAG | K,E 172 | NP_001123639.1 | |
NM_001130168.1 | 612 | Missense Mutation | AAG,GAG | K,E 50 | NP_001123640.1 | |
NM_182707.2 | 612 | Missense Mutation | AAG,GAG | K,E 172 | NP_874366.1 | |
XM_011526986.1 | 612 | Intron | XP_011525288.1 | |||
XM_011526987.2 | 612 | Intron | XP_011525289.1 | |||
XM_011526988.2 | 612 | Intron | XP_011525290.1 |