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GAGGGCCCGCCGGGGGCGCCCCGGC[A/C]CCTGGGGTCCCCACTGTGCGGCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 142461 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HSPG2 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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HSPG2 - heparan sulfate proteoglycan 2 | ||||||
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There are no transcripts associated with this gene. |
LDLRAD2 - low density lipoprotein receptor class A domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013693.2 | 561 | Missense Mutation | CAC,CCC | H,P 125 | NP_001013715.2 | |
XM_005245873.4 | 561 | Missense Mutation | CAC,CCC | H,P 125 | XP_005245930.1 |