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AGCTGCTCATCTTCTGCAACAGGGT[A/T]TGGCGCCGTTCTTCAGGGCCGATGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611627 MIM: 606969 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DBIL5P 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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DBIL5P - diazepam binding inhibitor-like 5, pseudogene | ||||||
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There are no transcripts associated with this gene. |
FAM57A - family with sequence similarity 57 member A | ||||||
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There are no transcripts associated with this gene. |
GEMIN4 - gem nuclear organelle associated protein 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015721.2 | 3484 | Missense Mutation | CAA,CAT | Q,H 1049 | NP_056536.2 | |
XM_005256667.4 | 3484 | Missense Mutation | CAA,CAT | Q,H 1053 | XP_005256724.1 | |
XM_005256670.4 | 3484 | Missense Mutation | CAA,CAT | Q,H 1038 | XP_005256727.1 | |
XM_011523910.2 | 3484 | Missense Mutation | CAA,CAT | Q,H 1053 | XP_011522212.1 | |
XM_011523911.2 | 3484 | Missense Mutation | CAA,CAT | Q,H 1053 | XP_011522213.1 | |
XM_011523912.2 | 3484 | Missense Mutation | CAA,CAT | Q,H 1038 | XP_011522214.1 | |
XM_011523913.2 | 3484 | Missense Mutation | CAA,CAT | Q,H 1038 | XP_011522215.1 | |
XM_017024709.1 | 3484 | Missense Mutation | CAA,CAT | Q,H 1053 | XP_016880198.1 |