Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGCGTTGGAGCCGTCTGGGACGGC[C/T]CGTGGGAGAGGCTGCAACCAGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614545 MIM: 160793 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EMC10 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
|
EMC10 - ER membrane protein complex subunit 10 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_175063.5 | 286 | Intron | NP_778233.4 | |||
NM_206538.3 | 286 | Intron | NP_996261.1 | |||
XM_006723163.3 | 286 | Intron | XP_006723226.1 | |||
XM_011526818.2 | 286 | Intron | XP_011525120.1 |
FAM71E1 - family with sequence similarity 71 member E1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308429.1 | 286 | Missense Mutation | AGC,GGC | S,G 91 | NP_001295358.1 | |
NM_138411.2 | 286 | Missense Mutation | AGC,GGC | S,G 91 | NP_612420.1 | |
XM_011526405.2 | 286 | Missense Mutation | AGC,GGC | S,G 91 | XP_011524707.2 | |
XM_011526406.2 | 286 | Missense Mutation | AGC,GGC | S,G 91 | XP_011524708.2 |
MYBPC2 - myosin binding protein C, fast type | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |