Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAACTGGATGACTCTGGACAAAGAT[A/G]TGCCCCAGTCAGCAGAGGGTGGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606628 MIM: 601498 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CNPY3-GNMT 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
|
CNPY3-GNMT - CNPY3-GNMT readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318856.1 | 387 | Missense Mutation | ATG,GTG | M,V 59 | NP_001305785.1 | |
NM_001318857.1 | 387 | Missense Mutation | ATG,GTG | M,V 64 | NP_001305786.1 | |
NM_001318858.1 | 387 | Missense Mutation | ATG,GTG | M,V 64 | NP_001305787.1 |
GNMT - glycine N-methyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318865.1 | 387 | Missense Mutation | ATG,GTG | M,V 125 | NP_001305794.1 | |
NM_018960.5 | 387 | Missense Mutation | ATG,GTG | M,V 125 | NP_061833.1 |
PEX6 - peroxisomal biogenesis factor 6 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |