Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACGGTACCCCGGCTGGGTGATCCTG[A/G]TGGGCACTGGCGCGCTCGGGCTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610323 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTDH 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
|
MTDH - metadherin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178812.3 | 695 | Missense Mutation | ATG,GTG | M,V 54 | NP_848927.2 | |
XM_005251099.3 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_005251156.1 | |
XM_011517367.2 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_011515669.1 | |
XM_011517368.2 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_011515670.1 | |
XM_011517369.2 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_011515671.1 | |
XM_011517370.2 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_011515672.1 | |
XM_017013966.1 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_016869455.1 | |
XM_017013967.1 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_016869456.1 | |
XM_017013968.1 | 695 | Missense Mutation | ATG,GTG | M,V 54 | XP_016869457.1 |