Product Details

SNP ID

rs141408568

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90241012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGACTTTGTTTATGGGCAGAAGG[A/C]TCTCATGGCAGAAGGGATTCAGTGG

Phenotype

MIM: 602293

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CIB1 PubMed Links

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	283	Intron			NP_001264693.1
NM_006384.3	283	Intron			NP_006375.2
XM_006720375.1	283	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	283	Missense Mutation	GAT,GCT	D35A	NP_001013679.2
NM_001322811.1	283	Missense Mutation	GAT,GCT	D35A	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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