Product Details

SNP ID

rs149397253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44504807 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAAATAATACTGTTCACCGAGAAG[C/G]TACGCCCATCGAAGGAGTTGGCCAC

Phenotype

MIM: 612920

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TSPEAR PubMed Links

Gene Details

Gene

TSPEAR

Gene Name

thrombospondin type laminin G domain and EAR repeats

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272037.1	1957	Missense Mutation	ACC,AGC	T542S	NP_001258966.1
NM_144991.2	1957	Missense Mutation	ACC,AGC	T610S	NP_659428.2

Gene

TSPEAR-AS1

Gene Name

TSPEAR antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details