Product Details

SNP ID
rs76857741
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42804259 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAACAGGCAGAGAACATCTGCAGG[A/C]AAGCCACAATCCAGCCAAGAGATAA
Phenotype
MIM: 604378 MIM: 614775 MIM: 601844
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BECN1 PubMed Links

Gene Details

Gene
BECN1
Gene Name
beclin 1
There are no transcripts associated with this gene.

Gene
CNTD1
Gene Name
cyclin N-terminal domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173478.2 435 Missense Mutation AAA,CAA K94Q NP_775749.2
XM_005257043.4 435 Missense Mutation AAA,CAA K88Q XP_005257100.1
XM_005257044.4 435 Missense Mutation AAA,CAA K11Q XP_005257101.1
XM_005257045.4 435 Missense Mutation AAA,CAA K11Q XP_005257102.1
XM_006721690.2 435 Missense Mutation AAA,CAA K94Q XP_006721753.1
XM_011524310.2 435 Missense Mutation AAA,CAA K11Q XP_011522612.1
XM_011524311.2 435 Missense Mutation AAA,CAA K11Q XP_011522613.1
XM_017024171.1 435 Missense Mutation AAA,CAA K11Q XP_016879660.1
Gene
COA3
Gene Name
cytochrome c oxidase assembly factor 3
There are no transcripts associated with this gene.

Gene
WNK4
Gene Name
WNK lysine deficient protein kinase 4
There are no transcripts associated with this gene.

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