Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGTTCCTCCCTCGCTTCTTACAGG[C/T]CCAGACCTTCTCTTTCCCTTTCCAG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 609884 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
TMEM67 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
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
|
TMEM67 - transmembrane protein 67 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142301.1 | 105 | UTR 5 | NP_001135773.1 | |||
NM_153704.5 | 105 | Missense Mutation | GCC,GTC | A,V 36 | NP_714915.3 | |
XM_006716686.3 | 105 | UTR 5 | XP_006716749.1 | |||
XM_011517363.2 | 105 | Missense Mutation | GCC,GTC | A,V 36 | XP_011515665.1 |