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CTCAAGTGACACAGAAGAACCAGCT[A/G]TAGCGCCAGATCTCAAACCAGTAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610572 MIM: 603139 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MARVELD2 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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MARVELD2 - MARVEL domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038603.2 | 373 | Missense Mutation | ATA,GTA | I,V 71 | NP_001033692.2 | |
NM_001244734.1 | 373 | Missense Mutation | ATA,GTA | I,V 71 | NP_001231663.1 | |
XM_005248445.4 | 373 | Missense Mutation | ATA,GTA | I,V 71 | XP_005248502.1 | |
XM_005248446.4 | 373 | Missense Mutation | ATA,GTA | I,V 71 | XP_005248503.1 | |
XM_005248447.4 | 373 | Missense Mutation | ATA,GTA | I,V 71 | XP_005248504.1 |
RAD17 - RAD17 checkpoint clamp loader component | ||||||
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There are no transcripts associated with this gene. |