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CCATTACTCCTCTGTTTGTGGCAGG[G/T]GGCCTTCCACATCCAACCCTACAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 612276 | ||||||||||||||||||||
Literature Links: |
MANEAL 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 |
MANEAL - mannosidase endo-alpha like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031740.2 | 743 | Missense Mutation | GGG,GTG | G,V 221 | NP_001026910.1 | |
NM_001113482.1 | 743 | Missense Mutation | GGG,GTG | G,V 221 | NP_001106954.1 | |
NM_152496.2 | 743 | Intron | NP_689709.1 | |||
XM_005270510.3 | 743 | Intron | XP_005270567.1 | |||
XM_011540788.1 | 743 | Intron | XP_011539090.1 |
YRDC - yrdC N6-threonylcarbamoyltransferase domain containing | ||||||
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There are no transcripts associated with this gene. |