Product Details

SNP ID

rs11551251

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90231144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACGCACTAAGCCGTGTGTCCTCG[A/C]CCTCTCCCGTGAGGCAGTTCACCAG

Phenotype

MIM: 602293 MIM: 617029

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	578	Missense Mutation	GGC,GTC	G179V	NP_001264693.1
NM_006384.3	578	Missense Mutation	GGC,GTC	G139V	NP_006375.2
XM_006720375.1	578	Missense Mutation	GGC,GTC	G139V	XP_006720438.1

Gene

GDPGP1

Gene Name

GDP-D-glucose phosphorylase 1

There are no transcripts associated with this gene.

Gene

SEMA4B

Gene Name

semaphorin 4B

There are no transcripts associated with this gene.

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