Product Details

SNP ID

rs147252866

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:153032400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCCACCCCCTCAGCTTCAGCAG[C/T]AGCAGGTGAAACAGCCTTGCCAGCC

Phenotype

MIM: 182266

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SPRR1B PubMed Links

Gene Details

Gene

SPRR1B

Gene Name

small proline rich protein 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003125.2	119	Nonsense Mutation	CAG,TAG	Q19*	NP_003116.2

Gene

SPRR2D

Gene Name

small proline rich protein 2D

There are no transcripts associated with this gene.

View Full Product Details