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CATGGAGAGGTCATCTCAGTTCCAC[A/C]CAAGATCATCACCCACCTTCGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 600605 MIM: 188062 | ||||||||||||||||||||
Literature Links: |
GBAP1 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 |
GBAP1 - glucosylceramidase beta pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |
MTX1 - metaxin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002455.4 | 756 | Missense Mutation | CAC,CCC | H,P 217 | NP_002446.3 | |
NM_198883.3 | 756 | Missense Mutation | CAC,CCC | H,P 217 | NP_942584.2 |
THBS3 - thrombospondin 3 | ||||||
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There are no transcripts associated with this gene. |