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GGACATCCCCCAGACCAAGCAGGAC[C/G]TGGAGCTCCCAAAGGTTTGAGGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 173310 | ||||||||||||||||||||
Literature Links: |
PAEP 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 |
PAEP - progestagen associated endometrial protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018048.1 | 128 | Missense Mutation | CTG,GTG | L,V 28 | NP_001018058.1 | |
NM_001018049.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | NP_001018059.1 | |
NM_002571.3 | 128 | Missense Mutation | CTG,GTG | L,V 28 | NP_002562.2 | |
XM_011518745.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517047.1 | |
XM_011518746.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517048.1 | |
XM_011518747.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517049.1 | |
XM_011518748.1 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517050.1 | |
XM_011518749.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517051.1 | |
XM_011518751.1 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517053.1 | |
XM_011518752.2 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_011517054.1 | |
XM_017014782.1 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_016870271.1 | |
XM_017014783.1 | 128 | Missense Mutation | CTG,GTG | L,V 28 | XP_016870272.1 |