Product Details

SNP ID

rs200343104

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:1310852 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGATGATGGTCAGGGTGACAA[C/T]GTTCCCAGCCGTGGCCAGAATCTCC

Phenotype

MIM: 604942

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FKBP1A-SDCBP2 PubMed Links

Gene Details

Gene

FKBP1A-SDCBP2

Gene Name

FKBP1A-SDCBP2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

SDCBP2

Gene Name

syndecan binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199784.1	942	Missense Mutation	ATT,GTT	I258V	NP_001186713.1
NM_015685.5	942	Missense Mutation	ATT,GTT	I173V	NP_056500.2
NM_080489.4	942	Missense Mutation	ATT,GTT	I258V	NP_536737.3

Gene

SNPH

Gene Name

syntaphilin

There are no transcripts associated with this gene.

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