Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGAATGCAAAGCCACAGAACAAAGA[G/A]CCCAGAAAGGAGTGGAGCTAAGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 608374 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HFE2 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
|
HFE2 - hemochromatosis type 2 (juvenile) | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316767.1 | 1054 | Missense Mutation | NP_001303696.1 | |||
NM_145277.4 | 1054 | Missense Mutation | NP_660320.3 | |||
NM_202004.3 | 1054 | Missense Mutation | NP_973733.1 | |||
NM_213652.3 | 1054 | Missense Mutation | NP_998817.1 | |||
NM_213653.3 | 1054 | Missense Mutation | NP_998818.1 | |||
XM_005272932.1 | 1054 | Missense Mutation | XP_005272989.1 |