Product Details

SNP ID

rs200098048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42804247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGTTTATGGTAAAACAGGCAGAG[A/C]ACATCTGCAGGCAAGCCACAATCCA

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	423	Missense Mutation	AAC,CAC	N90H	NP_775749.2
XM_005257043.4	423	Missense Mutation	AAC,CAC	N84H	XP_005257100.1
XM_005257044.4	423	Missense Mutation	AAC,CAC	N7H	XP_005257101.1
XM_005257045.4	423	Missense Mutation	AAC,CAC	N7H	XP_005257102.1
XM_006721690.2	423	Missense Mutation	AAC,CAC	N90H	XP_006721753.1
XM_011524310.2	423	Missense Mutation	AAC,CAC	N7H	XP_011522612.1
XM_011524311.2	423	Missense Mutation	AAC,CAC	N7H	XP_011522613.1
XM_017024171.1	423	Missense Mutation	AAC,CAC	N7H	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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