Product Details

SNP ID

rs139819219

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:175004641 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAAAGATCTAGAAGAGGTAAAG[G/T]TGTTGCTGGAAAAGGCTACTAGGAA

Phenotype

MIM: 606186 MIM: 611978 MIM: 609238

Polymorphism

G/T, Transversion 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	415	UTR 5			NP_001007215.1
NM_014412.2	415	Missense Mutation	GTG,TTG	V15L	NP_055227.1
XM_017001046.1	415	UTR 5			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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