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SNP ID

rs145319394

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:24963824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTATCTGGGAGGGCTAAACAGCCT[C/G]GAGGCTGAGTCTGCAGAGGAAGGGG

Phenotype

MIM: 615884 MIM: 603253

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APMAP PubMed Links

Gene Details

Gene

APMAP

Gene Name

adipocyte plasma membrane associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020531.2	1341	Missense Mutation	CAG,GAG	Q414E	NP_065392.1
XM_005260763.3	1341	UTR 3			XP_005260820.1

Gene

CST7

Gene Name

cystatin F

There are no transcripts associated with this gene.

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