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GCTGGAGATCCTGGAGGGGCTGTGC[A/G]AGAGCAGCGACTTCGAATGCAATCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607144 MIM: 607171 | ||||||||||||||||||||
Literature Links: |
ALG12 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 |
ALG12 - ALG12, alpha-1,6-mannosyltransferase | ||||||
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There are no transcripts associated with this gene. |
CRELD2 - cysteine rich with EGF like domains 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135101.2 | 390 | Missense Mutation | AAG,GAG | K,E 84 | NP_001128573.1 | |
NM_001284317.1 | 390 | Missense Mutation | AAG,GAG | K,E 84 | NP_001271246.1 | |
NM_001284318.1 | 390 | Missense Mutation | AAG,GAG | K,E 84 | NP_001271247.1 | |
NM_024324.4 | 390 | Missense Mutation | AAG,GAG | K,E 84 | NP_077300.3 | |
XM_005261737.2 | 390 | Missense Mutation | AAG,GAG | K,E 84 | XP_005261794.1 | |
XM_005261738.4 | 390 | Missense Mutation | AAG,GAG | K,E 84 | XP_005261795.1 | |
XM_011530372.2 | 390 | Missense Mutation | AAG,GAG | K,E 84 | XP_011528674.1 | |
XM_017028938.1 | 390 | UTR 5 | XP_016884427.1 |