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GGCCAGAGGCTCGGGCTCGAGCATC[C/T]GCAGCTGGTTGCGTTGCAGCTGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610055 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CC2D1A 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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CC2D1A - coiled-coil and C2 domain containing 1A | ||||||
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There are no transcripts associated with this gene. |
PODNL1 - podocan like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146254.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 440 | NP_001139726.1 | |
NM_001146255.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 351 | NP_001139727.1 | |
NM_024825.3 | 1433 | Missense Mutation | CAG,CGG | Q,R 442 | NP_079101.3 | |
XM_006722901.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 442 | XP_006722964.1 | |
XM_006722902.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 397 | XP_006722965.1 | |
XM_006722903.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 353 | XP_006722966.1 | |
XM_011528308.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 440 | XP_011526610.1 | |
XM_011528309.2 | 1433 | Missense Mutation | CAG,CGG | Q,R 424 | XP_011526611.1 | |
XM_011528310.2 | 1433 | Missense Mutation | CAG,CGG | Q,R 412 | XP_011526612.1 | |
XM_011528311.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 409 | XP_011526613.1 | |
XM_011528313.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 360 | XP_011526615.1 | |
XM_011528314.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 345 | XP_011526616.1 | |
XM_011528316.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 271 | XP_011526618.1 | |
XM_017027313.1 | 1433 | Missense Mutation | CAG,CGG | Q,R 345 | XP_016882802.1 |