Product Details

SNP ID

rs147405990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:90231395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATAATGGGACTTGATGTCTGGC[A/G]TGGCTGTGTCACTGAACACACTGAG

Phenotype

MIM: 602293 MIM: 617029

Polymorphism

A/G, Transition 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	470	Missense Mutation	ACG,ATG	T143M	NP_001264693.1
NM_006384.3	470	Missense Mutation	ACG,ATG	T103M	NP_006375.2
XM_006720375.1	470	Missense Mutation	ACG,ATG	T103M	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.

View Full Product Details