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GGCGGAGAGGTTGGGCTGAGACCTG[C/T]GAGGGGCACAGAAGCCAGCACTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609720 MIM: 613633 | ||||||||||||||||||||
Literature Links: |
CRB2 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 |
CRB2 - crumbs 2, cell polarity complex component | ||||||
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There are no transcripts associated with this gene. |
DENND1A - DENN domain containing 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020946.1 | 3752 | Missense Mutation | CAC,CGC | H,R 881 | NP_065997.1 | |
NM_024820.2 | 3752 | Intron | NP_079096.2 | |||
XM_005252109.2 | 3752 | Missense Mutation | CAC,CGC | H,R 942 | XP_005252166.1 | |
XM_005252111.4 | 3752 | Missense Mutation | CAC,CGC | H,R 896 | XP_005252168.1 | |
XM_005252113.4 | 3752 | Intron | XP_005252170.1 | |||
XM_006717195.3 | 3752 | Missense Mutation | CAC,CGC | H,R 939 | XP_006717258.1 | |
XM_011518882.2 | 3752 | Missense Mutation | CAC,CGC | H,R 957 | XP_011517184.1 | |
XM_011518883.2 | 3752 | Missense Mutation | CAC,CGC | H,R 938 | XP_011517185.1 | |
XM_011518884.2 | 3752 | Missense Mutation | CAC,CGC | H,R 928 | XP_011517186.1 | |
XM_011518885.2 | 3752 | Missense Mutation | CAC,CGC | H,R 921 | XP_011517187.1 | |
XM_011518886.2 | 3752 | Missense Mutation | CAC,CGC | H,R 914 | XP_011517188.1 | |
XM_011518887.2 | 3752 | Intron | XP_011517189.1 | |||
XM_017014947.1 | 3752 | Missense Mutation | CAC,CGC | H,R 930 | XP_016870436.1 | |
XM_017014948.1 | 3752 | Missense Mutation | CAC,CGC | H,R 924 | XP_016870437.1 | |
XM_017014949.1 | 3752 | Missense Mutation | CAC,CGC | H,R 915 | XP_016870438.1 | |
XM_017014950.1 | 3752 | Missense Mutation | CAC,CGC | H,R 897 | XP_016870439.1 | |
XM_017014951.1 | 3752 | Missense Mutation | CAC,CGC | H,R 892 | XP_016870440.1 | |
XM_017014952.1 | 3752 | Missense Mutation | CAC,CGC | H,R 683 | XP_016870441.1 |