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ACGCGCAGTGCCAGACCTTACCCCT[C/T]ACGGTCCTTAAGTCTCGGTCGCCCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601959 MIM: 610358 | |||||||||||||||||||||||
Literature Links: |
GLT8D1 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 - 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 |
GLT8D1 - glycosyltransferase 8 domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010983.2 | 331 | Intron | NP_001010983.1 | |||
NM_001278280.1 | 331 | Intron | NP_001265209.1 | |||
NM_001278281.1 | 331 | Intron | NP_001265210.1 | |||
NM_018446.3 | 331 | Intron | NP_060916.1 | |||
NM_152932.2 | 331 | Intron | NP_690909.1 | |||
XM_017006857.1 | 331 | Intron | XP_016862346.1 | |||
XM_017006858.1 | 331 | Intron | XP_016862347.1 | |||
XM_017006859.1 | 331 | Intron | XP_016862348.1 |
NEK4 - NIMA related kinase 4 | ||||||
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There are no transcripts associated with this gene. |
SPCS1 - signal peptidase complex subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014041.3 | 331 | Silent Mutation | CTC,CTT | L,L 42 | NP_054760.3 |