Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGGTCAAACCACTTCTCCGGTTGA[A/G]CAGTGTATTTTGATCTTGAGGATTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606544 MIM: 606873 | ||||||||||||||||||||
Literature Links: |
GFM2 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 |
GFM2 - G elongation factor mitochondrial 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281302.1 | 2666 | Missense Mutation | CTC,TTC | L,F 804 | NP_001268231.1 | |
NM_032380.4 | 2666 | Missense Mutation | CTC,TTC | L,F 772 | NP_115756.2 | |
NM_170681.2 | 2666 | Intron | NP_733781.1 | |||
NM_170691.2 | 2666 | Missense Mutation | CTC,TTC | L,F 725 | NP_733792.1 | |
XM_011543691.2 | 2666 | Intron | XP_011541993.1 | |||
XM_017009986.1 | 2666 | Missense Mutation | CTC,TTC | L,F 772 | XP_016865475.1 |
HEXB - hexosaminidase subunit beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000521.3 | 2666 | Intron | NP_000512.1 | |||
NM_001292004.1 | 2666 | Intron | NP_001278933.1 |