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TCTCAGAATTGGAGGGCTCTGAAAC[A/C]GCAGCTTGTCAACAAGTTTACTCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604378 MIM: 614775 MIM: 601844 | ||||||||||||||||||||
Literature Links: |
BECN1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
BECN1 - beclin 1 | ||||||
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There are no transcripts associated with this gene. |
CNTD1 - cyclin N-terminal domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173478.2 | 496 | Missense Mutation | CAG,CCG | Q,P 114 | NP_775749.2 | |
XM_005257043.4 | 496 | Missense Mutation | CAG,CCG | Q,P 108 | XP_005257100.1 | |
XM_005257044.4 | 496 | Missense Mutation | CAG,CCG | Q,P 31 | XP_005257101.1 | |
XM_005257045.4 | 496 | Missense Mutation | CAG,CCG | Q,P 31 | XP_005257102.1 | |
XM_006721690.2 | 496 | Missense Mutation | CAG,CCG | Q,P 114 | XP_006721753.1 | |
XM_011524310.2 | 496 | Missense Mutation | CAG,CCG | Q,P 31 | XP_011522612.1 | |
XM_011524311.2 | 496 | Missense Mutation | CAG,CCG | Q,P 31 | XP_011522613.1 | |
XM_017024171.1 | 496 | Missense Mutation | CAG,CCG | Q,P 31 | XP_016879660.1 |
COA3 - cytochrome c oxidase assembly factor 3 | ||||||
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There are no transcripts associated with this gene. |
WNK4 - WNK lysine deficient protein kinase 4 | ||||||
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There are no transcripts associated with this gene. |