Product Details

SNP ID

rs138480801

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44499878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGTGGTGCTGAAGGCCTCCCAGT[C/T]CCTGCAGCCGACGGTGGGGAGGCTG

Phenotype

MIM: 612920

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC100505727 PubMed Links

Gene Details

Gene

LOC100505727

Gene Name

uncharacterized LOC100505727

There are no transcripts associated with this gene.

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	2043	Missense Mutation	AAC,GAC	N571D	NP_001258966.1
NM_144991.2	2043	Missense Mutation	AAC,GAC	N639D	NP_659428.2

Gene

TSPEAR-AS1

Gene Name

TSPEAR antisense RNA 1

There are no transcripts associated with this gene.

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