Product Details

SNP ID: rs11548912
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:175004761 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAAATCACAGAAGAAAGCAGAACTT[C/T]TTGATAATGAAAAACCAGCTGCTGT
Phenotype: MIM: 606186 MIM: 611978 MIM: 609238
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CACYBP PubMed Links

Gene Details

Gene: CACYBP
Gene Name: calcyclin binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007214.1	535	Missense Mutation	CTT,TTT	L12F	NP_001007215.1
NM_014412.2	535	Missense Mutation	CTT,TTT	L55F	NP_055227.1
XM_017001046.1	535	Missense Mutation	CTT,TTT	L12F	XP_016856535.1

Gene: LOC105371622
Gene Name: uncharacterized LOC105371622

There are no transcripts associated with this gene.

Gene: MRPS14
Gene Name: mitochondrial ribosomal protein S14

There are no transcripts associated with this gene.

Gene: RABGAP1L
Gene Name: RAB GTPase activating protein 1 like

There are no transcripts associated with this gene.

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