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GGAGATGGAGAAGTTAGTTTTGAAG[A/C]ATTCCAAGTATTAGTAAAAAAGATA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300380 MIM: 302020 | ||||||||||||||||||||
Literature Links: |
CTPS2 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 |
CTPS2 - CTP synthase 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144002.1 | 727 | Intron | NP_001137474.1 | |||
NM_019857.4 | 727 | Intron | NP_062831.3 | |||
NM_175859.2 | 727 | Intron | NP_787055.1 | |||
XM_005274562.3 | 727 | Intron | XP_005274619.1 | |||
XM_006724503.3 | 727 | Intron | XP_006724566.1 | |||
XM_011545545.2 | 727 | Intron | XP_011543847.1 |
S100G - S100 calcium binding protein G | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004057.2 | 727 | Missense Mutation | GAA,GCA | E,A 69 | NP_004048.1 | |
XM_017029841.1 | 727 | Missense Mutation | GAA,GCA | E,A 69 | XP_016885330.1 |