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ATCACCACGCCGAGGCCGCGCTGCG[A/G]GGGGCTCCCGGATCCCGGAGTGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
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Literature Links: |
HAPLN2 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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HAPLN2 - hyaluronan and proteoglycan link protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021817.2 | 1254 | Missense Mutation | GAG,GGG | E,G 312 | NP_068589.1 | |
XM_005245415.2 | 1254 | Missense Mutation | GAG,GGG | E,G 312 | XP_005245472.1 | |
XM_011509853.2 | 1254 | Missense Mutation | GAG,GGG | E,G 312 | XP_011508155.1 | |
XM_017002020.1 | 1254 | Missense Mutation | GAG,GGG | E,G 312 | XP_016857509.1 | |
XM_017002021.1 | 1254 | Intron | XP_016857510.1 |
LOC101928177 - uncharacterized LOC101928177 | ||||||
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There are no transcripts associated with this gene. |