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CTTCGGACCCCAGGCTCTGGGGGCC[A/C]ACAGTTAGGATGCGGGTGAACCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 155760 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACAN 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
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ACAN - aggrecan | ||||||
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There are no transcripts associated with this gene. |
HAPLN3 - hyaluronan and proteoglycan link protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307952.1 | 1216 | Missense Mutation | GGG,TGG | G,W 395 | NP_001294881.1 | |
NM_178232.3 | 1216 | Missense Mutation | GGG,TGG | G,W 333 | NP_839946.1 | |
XM_011521261.1 | 1216 | Missense Mutation | GGG,TGG | G,W 377 | XP_011519563.1 | |
XM_017021934.1 | 1216 | Missense Mutation | GGG,TGG | G,W 294 | XP_016877423.1 | |
XM_017021935.1 | 1216 | Missense Mutation | GGG,TGG | G,W 226 | XP_016877424.1 | |
XM_017021936.1 | 1216 | Missense Mutation | GGG,TGG | G,W 226 | XP_016877425.1 |