Product Details

SNP ID
rs147752025
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:61258877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCGTCAGGAGGGTGCCAGGCAGA[A/G]GAGGCCACCTGGACACTATCTGGGC
Phenotype
MIM: 169730 MIM: 611115
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PGA5 PubMed Links

Gene Details

Gene
PGA5
Gene Name
pepsinogen 5, group I (pepsinogen A)
There are no transcripts associated with this gene.

Gene
VWCE
Gene Name
von Willebrand factor C and EGF domains
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152718.2 2538 Missense Mutation CCT,CTT P889L NP_689931.2
XM_006718460.1 2538 Missense Mutation CCT,CTT P881L XP_006718523.1
XM_006718462.1 2538 Missense Mutation CCT,CTT P829L XP_006718525.1
XM_011544817.1 2538 Missense Mutation CCT,CTT P791L XP_011543119.1
XM_017017340.1 2538 Missense Mutation CCT,CTT P868L XP_016872829.1
XM_017017341.1 2538 Missense Mutation CCT,CTT P846L XP_016872830.1
XM_017017342.1 2538 Missense Mutation CCT,CTT P759L XP_016872831.1
XM_017017343.1 2538 Missense Mutation CCT,CTT P606L XP_016872832.1
XM_017017344.1 2538 Intron XP_016872833.1

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