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GATTCATTAAGAGTCAACCATAATG[A/G]CGGTGAAGAGTCAAAAACCAGTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607586 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CARF PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
CARF - calcium responsive transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001104586.2 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_001098056.1 | |
NM_001282910.1 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_001269839.1 | |
NM_001282911.1 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_001269840.1 | |
NM_001282912.1 | 364 | Intron | NP_001269841.1 | |||
NM_001322427.1 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_001309356.1 | |
NM_001322428.1 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_001309357.1 | |
NM_001322429.1 | 364 | Intron | NP_001309358.1 | |||
NM_001322430.1 | 364 | UTR 5 | NP_001309359.1 | |||
NM_024744.15 | 364 | Missense Mutation | GAC,GGC | D,G 14 | NP_079020.13 | |
XM_005246858.3 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_005246915.1 | |
XM_005246859.3 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_005246916.1 | |
XM_005246864.3 | 364 | Intron | XP_005246921.1 | |||
XM_006712760.2 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_006712823.1 | |
XM_011511867.2 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_011510169.1 | |
XM_011511868.2 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_011510170.1 | |
XM_011511869.2 | 364 | Intron | XP_011510171.1 | |||
XM_017004961.1 | 364 | Missense Mutation | GAC,GGC | D,G 14 | XP_016860450.1 | |
XM_017004962.1 | 364 | Intron | XP_016860451.1 | |||
XM_017004963.1 | 364 | Intron | XP_016860452.1 | |||
XM_017004964.1 | 364 | Intron | XP_016860453.1 | |||
XM_017004965.1 | 364 | Intron | XP_016860454.1 | |||
XM_017004966.1 | 364 | Intron | XP_016860455.1 |