Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCTGCCTGAGCTGCCACGGTAAAG[T/A]TGGGATCACCAGAAATTAAAACATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 608374 | ||||||||||||||||||||
Literature Links: |
HFE2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HFE2 - hemochromatosis type 2 (juvenile) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316767.1 | 917 | Missense Mutation | AAC,ATC | N,I 146 | NP_001303696.1 | |
NM_145277.4 | 917 | Missense Mutation | AAC,ATC | N,I 259 | NP_660320.3 | |
NM_202004.3 | 917 | Missense Mutation | AAC,ATC | N,I 146 | NP_973733.1 | |
NM_213652.3 | 917 | Missense Mutation | AAC,ATC | N,I 146 | NP_998817.1 | |
NM_213653.3 | 917 | Missense Mutation | AAC,ATC | N,I 372 | NP_998818.1 | |
XM_005272932.1 | 917 | Missense Mutation | AAC,ATC | N,I 372 | XP_005272989.1 |