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GACGCTTGGCGAAACTGAGGTCTCA[A/T]GGAGAAGCCCCGGAGTATTGAGGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616236 MIM: 611865 | ||||||||||||||||||||
Literature Links: |
CHADL 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 |
CHADL - chondroadherin like | ||||||
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There are no transcripts associated with this gene. |
EP300-AS1 - EP300 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
L3MBTL2 - L3MBTL2 polycomb repressive complex 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031488.4 | 173 | Missense Mutation | AAG,ATG | K,M 1 | NP_113676.2 | |
XM_011530420.2 | 173 | Missense Mutation | AGG,TGG | R,W 28 | XP_011528722.1 | |
XM_011530421.2 | 173 | UTR 5 | XP_011528723.1 | |||
XM_017028976.1 | 173 | Missense Mutation | AAG,ATG | K,M 1 | XP_016884465.1 | |
XM_017028977.1 | 173 | Intron | XP_016884466.1 | |||
XM_017028978.1 | 173 | Intron | XP_016884467.1 | |||
XM_017028979.1 | 173 | UTR 5 | XP_016884468.1 | |||
XM_017028980.1 | 173 | UTR 5 | XP_016884469.1 |