Product Details

SNP ID

rs145186457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:105174376 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCATCATCGTCATCTGGTTGAT[C/G]GTTTAACAGTACATATTTTCCGTCA

Phenotype

MIM: 606231 MIM: 615748

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APPL2 PubMed Links

Gene Details

Gene

APPL2

Gene Name

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001251904.1	3266	Missense Mutation	CAT,GAT	H651D	NP_001238833.1
NM_001251905.1	3266	Missense Mutation	CAT,GAT	H602D	NP_001238834.1
NM_018171.3	3266	Missense Mutation	CAT,GAT	H645D	NP_060641.2
XM_006719472.1	3266	Missense Mutation	CAT,GAT	H604D	XP_006719535.1
XM_011538530.2	3266	Missense Mutation	CAT,GAT	H638D	XP_011536832.1
XM_011538531.2	3266	Missense Mutation	CAT,GAT	H608D	XP_011536833.1
XM_011538532.2	3266	Missense Mutation	CAT,GAT	H608D	XP_011536834.1
XM_017019551.1	3266	Missense Mutation	CAT,GAT	H632D	XP_016875040.1
XM_017019552.1	3266	Missense Mutation	CAT,GAT	H602D	XP_016875041.1
XM_017019553.1	3266	Missense Mutation	CAT,GAT	H602D	XP_016875042.1
XM_017019554.1	3266	Missense Mutation	CAT,GAT	H598D	XP_016875043.1

Gene

KIAA1033

Gene Name

KIAA1033

There are no transcripts associated with this gene.

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