Product Details

SNP ID

rs146341033

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:1372144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTTAGAAGCTCCACATCGAAGA[C/T]GAGAGTGGCATGTGGTGGGATGATG

Phenotype

MIM: 186945

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FKBP1A PubMed Links

Gene Details

Gene

FKBP1A

Gene Name

FK506 binding protein 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000801.4	469	Intron			NP_000792.1
NM_001199786.1	469	Intron			NP_001186715.1
NM_054014.3	469	Missense Mutation	ATC,GTC	I99V	NP_463460.1

Gene

FKBP1A-SDCBP2

Gene Name

FKBP1A-SDCBP2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

SDCBP2-AS1

Gene Name

SDCBP2 antisense RNA 1

There are no transcripts associated with this gene.

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