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TTCTTGAGGTGAATGGTATGCAGGA[A/G]ACTGGACGTAGCTGTTAAAATCCAC
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603715 | ||||||||||||||||||||||||||
Literature Links: |
GCM1 PubMed Links | ||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese)
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EUR - Not Available | |||||
AMR - Not Available |
GCM1 - glial cells missing homolog 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003643.3 | 1342 | Missense Mutation | TCT,TTT | S,F 378 | NP_003634.2 | |
XM_017011390.1 | 1342 | Missense Mutation | TCT,TTT | S,F 440 | XP_016866879.1 |