Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AATCAGTCTGTTGTATGCAATTCCA[A/G]TAAGTTCTTCTTTTTTGCCCCCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607746 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FERMT2 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
|
FERMT2 - fermitin family member 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134999.1 | 2083 | Missense Mutation | ACT,ATT | T,I 593 | NP_001128471.1 | |
NM_001135000.1 | 2083 | Missense Mutation | ACT,ATT | T,I 593 | NP_001128472.1 | |
NM_006832.2 | 2083 | Missense Mutation | ACT,ATT | T,I 586 | NP_006823.1 | |
XM_005267285.2 | 2083 | Missense Mutation | ACT,ATT | T,I 597 | XP_005267342.1 | |
XM_006720008.2 | 2083 | Missense Mutation | ACT,ATT | T,I 612 | XP_006720071.1 | |
XM_006720009.2 | 2083 | Missense Mutation | ACT,ATT | T,I 604 | XP_006720072.1 | |
XM_006720010.2 | 2083 | Missense Mutation | ACT,ATT | T,I 601 | XP_006720073.1 |