Product Details

SNP ID

rs149040516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:1310474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGATGGAGTGGTCCATGGTGTG[A/G]TGGAGCAGGACTGGAGGCAACCTGG

Phenotype

MIM: 604942

Polymorphism

A/G, 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	1016	Silent Mutation	CAC,CAT	H282H	NP_001186713.1
NM_015685.5	1016	Silent Mutation	CAC,CAT	H197H	NP_056500.2
NM_080489.4	1016	Silent Mutation	CAC,CAT	H282H	NP_536737.3

Gene

SNPH

Gene Name

syntaphilin

There are no transcripts associated with this gene.

View Full Product Details