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Search Thermo Fisher Scientific
GCTGGGCCAGGTGCACGAGGTTCCC[A/G]AGGGCTGGCTCATCTTCGTGGCCGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120328 MIM: 600424 | ||||||||||||||||||||
Literature Links: |
COL18A1 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 |
COL18A1 - collagen type XVIII alpha 1 chain | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030582.3 | 3694 | Missense Mutation | AAG,GAG | K,E 1225 | NP_085059.2 | |
NM_130444.2 | 3694 | Missense Mutation | AAG,GAG | K,E 1460 | NP_569711.2 | |
NM_130445.3 | 3694 | Missense Mutation | AAG,GAG | K,E 1045 | NP_569712.2 |
SLC19A1 - solute carrier family 19 member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001205206.1 | 3694 | Intron | NP_001192135.1 | |||
NM_001205207.1 | 3694 | Intron | NP_001192136.1 | |||
NM_194255.2 | 3694 | Intron | NP_919231.1 | |||
XM_005261164.3 | 3694 | Intron | XP_005261221.1 | |||
XM_011529696.2 | 3694 | Intron | XP_011527998.1 | |||
XM_011529698.2 | 3694 | Intron | XP_011528000.1 | |||
XM_011529700.2 | 3694 | Intron | XP_011528002.1 | |||
XM_011529701.2 | 3694 | Intron | XP_011528003.1 | |||
XM_011529702.2 | 3694 | Intron | XP_011528004.1 | |||
XM_011529703.2 | 3694 | Intron | XP_011528005.1 | |||
XM_011529704.2 | 3694 | Intron | XP_011528006.1 | |||
XM_011529706.2 | 3694 | Intron | XP_011528008.1 | |||
XM_011529709.2 | 3694 | Intron | XP_011528011.1 | |||
XM_017028443.1 | 3694 | Intron | XP_016883932.1 | |||
XM_017028444.1 | 3694 | Intron | XP_016883933.1 | |||
XM_017028445.1 | 3694 | Intron | XP_016883934.1 | |||
XM_017028446.1 | 3694 | Intron | XP_016883935.1 |