Product Details

SNP ID

rs200553287

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33255281 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTCTCCTGGCAGATGTTCTGCT[A/C]CACTGTGTCACACTCGGCTAGGAAT

Phenotype

MIM: 601497 MIM: 610900 MIM: 613929

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BAG1 PubMed Links

Gene Details

Gene

BAG1

Gene Name

BCL2 associated athanogene 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172415.1	1063	Nonsense Mutation	GAG,TAG	E211*	NP_001165886.1
NM_004323.5	1063	Nonsense Mutation	GAG,TAG	E326*	NP_004314.5

Gene

CHMP5

Gene Name

charged multivesicular body protein 5

There are no transcripts associated with this gene.

Gene

SPINK4

Gene Name

serine peptidase inhibitor, Kazal type 4

There are no transcripts associated with this gene.

View Full Product Details