Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCGCAGCGGTCCAGGCCATGGAACT[C/T]CCAGGCGGCAAAGAGCTGTCCCACC
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 |
---|---|---|
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 |
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 | 1129 | Missense Mutation | AAG,GAG | K,E 366 | NP_001294881.1 | |
NM_178232.3 | 1129 | Missense Mutation | AAG,GAG | K,E 304 | NP_839946.1 | |
XM_011521261.1 | 1129 | Missense Mutation | AAG,GAG | K,E 348 | XP_011519563.1 | |
XM_017021934.1 | 1129 | Missense Mutation | AAG,GAG | K,E 265 | XP_016877423.1 | |
XM_017021935.1 | 1129 | Missense Mutation | AAG,GAG | K,E 197 | XP_016877424.1 | |
XM_017021936.1 | 1129 | Missense Mutation | AAG,GAG | K,E 197 | XP_016877425.1 |