Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGATGCCTGAGGAGAATCTGCCCC[C/T]GGTCAGCGTGGCCACGTCAGGGGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
11 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 |
---|---|---|
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 |
HSPG2 - heparan sulfate proteoglycan 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291860.1 | 13113 | Missense Mutation | AGG,GGG | R,G 4346 | NP_001278789.1 | |
NM_005529.6 | 13113 | Missense Mutation | AGG,GGG | R,G 4345 | NP_005520.4 | |
XM_011541318.2 | 13113 | Missense Mutation | AGG,GGG | R,G 4528 | XP_011539620.1 | |
XM_017001120.1 | 13113 | Missense Mutation | AGG,GGG | R,G 4410 | XP_016856609.1 | |
XM_017001121.1 | 13113 | Missense Mutation | AGG,GGG | R,G 4393 | XP_016856610.1 | |
XM_017001122.1 | 13113 | Missense Mutation | AGG,GGG | R,G 4392 | XP_016856611.1 |
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 | 13113 | UTR 3 | NP_001013715.2 | |||
XM_005245873.4 | 13113 | Intron | XP_005245930.1 |