Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGGTGGGAGAAAGCACGCGAGGCC[C/T]GAGGAGGGTGATGGGGGTCTTCGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 169730 MIM: 611115 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PGA5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
PGA5 - pepsinogen 5, group I (pepsinogen A) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
VWCE - von Willebrand factor C and EGF domains | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152718.2 | 2621 | Missense Mutation | AGG,GGG | R,G 917 | NP_689931.2 | |
XM_006718460.1 | 2621 | Missense Mutation | AGG,GGG | R,G 909 | XP_006718523.1 | |
XM_006718462.1 | 2621 | Missense Mutation | AGG,GGG | R,G 857 | XP_006718525.1 | |
XM_011544817.1 | 2621 | Missense Mutation | AGG,GGG | R,G 819 | XP_011543119.1 | |
XM_017017340.1 | 2621 | Missense Mutation | AGG,GGG | R,G 896 | XP_016872829.1 | |
XM_017017341.1 | 2621 | Missense Mutation | AGG,GGG | R,G 874 | XP_016872830.1 | |
XM_017017342.1 | 2621 | Missense Mutation | AGG,GGG | R,G 787 | XP_016872831.1 | |
XM_017017343.1 | 2621 | Missense Mutation | AGG,GGG | R,G 634 | XP_016872832.1 | |
XM_017017344.1 | 2621 | Intron | XP_016872833.1 |