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TTGCCAGCTCTCTGCTGAGGAGGTG[C/T]GGTTCCCAGTCTCTGTGACCCAGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191350 | ||||||||||||||||||||
Literature Links: |
C2CD2L 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 |
C2CD2L - C2CD2 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290474.1 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | NP_001277403.1 | |
NM_014807.4 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | NP_055622.3 | |
XM_006718948.3 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | XP_006719011.1 | |
XM_011543076.2 | 1165 | Missense Mutation | CGG,TGG | R,W 13 | XP_011541378.1 | |
XM_017018625.1 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | XP_016874114.1 | |
XM_017018626.1 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | XP_016874115.1 | |
XM_017018627.1 | 1165 | Missense Mutation | CGG,TGG | R,W 162 | XP_016874116.1 | |
XM_017018628.1 | 1165 | Missense Mutation | CGG,TGG | R,W 13 | XP_016874117.1 |
DPAGT1 - dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | ||||||
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There are no transcripts associated with this gene. |