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GAGTAAAAGATGACGATCTCCAGGA[G/T]GGCTGGGATGATGAGAGCCAGGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613109 MIM: 608332 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GM2A PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GM2A - GM2 ganglioside activator | ||||||
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There are no transcripts associated with this gene. |
SLC36A3 - solute carrier family 36 member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145017.1 | 1486 | Missense Mutation | NP_001138489.1 | |||
NM_181774.3 | 1486 | Missense Mutation | NP_861439.3 | |||
XM_011537627.2 | 1486 | Missense Mutation | XP_011535929.1 | |||
XM_011537629.2 | 1486 | Missense Mutation | XP_011535931.1 | |||
XM_011537630.1 | 1486 | Missense Mutation | XP_011535932.1 | |||
XM_011537631.1 | 1486 | Missense Mutation | XP_011535933.1 | |||
XM_011537633.1 | 1486 | Missense Mutation | XP_011535935.1 | |||
XM_011537634.2 | 1486 | Intron | XP_011535936.1 |