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CCACTCATTCCTGCCCTGCTCACCT[C/G]AGCATGACTCCCAGCAGTCAGGGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604995 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRIP3 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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CRIP3 - cysteine rich protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_206922.2 | 493 | Missense Mutation | CAG,GAG | Q,E 165 | NP_996805.2 | |
XM_005249103.3 | 493 | Missense Mutation | CAG,GAG | Q,E 165 | XP_005249160.1 | |
XM_011514609.2 | 493 | Missense Mutation | CAG,GAG | Q,E 165 | XP_011512911.1 | |
XM_017010856.1 | 493 | Missense Mutation | CAG,GAG | Q,E 121 | XP_016866345.1 | |
XM_017010857.1 | 493 | Missense Mutation | CAG,GAG | Q,E 97 | XP_016866346.1 |
SLC22A7 - solute carrier family 22 member 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006672.3 | 493 | Intron | NP_006663.2 | |||
NM_153320.2 | 493 | Intron | NP_696961.2 | |||
XM_006714970.3 | 493 | Intron | XP_006715033.1 | |||
XM_006714971.3 | 493 | Intron | XP_006715034.1 | |||
XM_011514256.2 | 493 | Intron | XP_011512558.1 | |||
XM_011514257.2 | 493 | Intron | XP_011512559.1 | |||
XM_011514259.1 | 493 | Intron | XP_011512561.1 | |||
XM_011514261.2 | 493 | Intron | XP_011512563.1 | |||
XM_011514262.2 | 493 | Intron | XP_011512564.1 | |||
XM_011514263.2 | 493 | Intron | XP_011512565.1 | |||
XM_017010198.1 | 493 | Intron | XP_016865687.1 | |||
XM_017010199.1 | 493 | Intron | XP_016865688.1 | |||
XM_017010200.1 | 493 | Intron | XP_016865689.1 | |||
XM_017010201.1 | 493 | Intron | XP_016865690.1 |