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TGGTCTGGAGCAGTCAGCAGGGGGC[A/G]CCTGTCTCGGGCCATGCTCTCCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604134 MIM: 602930 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAMTS13 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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ADAMTS13 - ADAM metallopeptidase with thrombospondin type 1 motif 13 | ||||||
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There are no transcripts associated with this gene. |
REXO4 - REX4 homolog, 3'-5' exonuclease | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001279349.1 | 1160 | Missense Mutation | CGC,TGC | R,C 237 | NP_001266278.1 | |
NM_001279350.1 | 1160 | Missense Mutation | CGC,TGC | R,C 272 | NP_001266279.1 | |
NM_001279351.1 | 1160 | Missense Mutation | CGC,TGC | R,C 316 | NP_001266280.1 | |
NM_020385.3 | 1160 | Missense Mutation | CGC,TGC | R,C 409 | NP_065118.2 |
STKLD1 - serine/threonine kinase like domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153710.4 | 1160 | Intron | NP_714921.4 |