Product Details

SNP ID: rs199946492
Assay Type: Functionally tested
NCBI dbSNP Submissions: 4
Location: Chr.1:160211619 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTGAAGATCTAGAACAGCTCAAGTC[C/G]GCCTGCAAGGAAGACATCCCCAGCG
Phenotype: MIM: 114250 MIM: 615820 MIM: 603434
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CASQ1 PubMed Links

Gene Details

Gene: CASQ1
Gene Name: calsequestrin 1

There are no transcripts associated with this gene.

Gene: DCAF8
Gene Name: DDB1 and CUL4 associated factor 8

There are no transcripts associated with this gene.

Gene: LOC729867
Gene Name: uncharacterized LOC729867

There are no transcripts associated with this gene.

Gene: PEA15
Gene Name: phosphoprotein enriched in astrocytes 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297576.1	281	Silent Mutation	TCC,TCG	S46S	NP_001284505.1
NM_001297577.1	281	Silent Mutation	TCC,TCG	S25S	NP_001284506.1
NM_001297578.1	281	Silent Mutation	TCC,TCG	S25S	NP_001284507.1
NM_003768.4	281	Silent Mutation	TCC,TCG	S25S	NP_003759.1
XM_006711599.2	281	Silent Mutation	TCC,TCG	S25S	XP_006711662.1

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