Product Details

SNP ID

rs12900317

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90240924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGCTCTATGGCTCTTCCACAT[C/G]ATTCAAACGAAACTTCCTATTTGCT

Phenotype

MIM: 602293

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CIB1 PubMed Links

Additional Information

For this assay, SNP(s) [rs78054010] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CIB1

Gene Name

calcium and integrin binding 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277764.1	195	Intron			NP_001264693.1
NM_006384.3	195	Intron			NP_006375.2
XM_006720375.1	195	Intron			XP_006720438.1

Gene

GDPGP1

Gene Name

GDP-D-glucose phosphorylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013657.2	195	Missense Mutation	CAT,GAT	H6D	NP_001013679.2
NM_001322811.1	195	Missense Mutation	CAT,GAT	H6D	NP_001309740.1

Gene

TTLL13P

Gene Name

tubulin tyrosine ligase like 13, pseudogene

There are no transcripts associated with this gene.

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