Product Details

SNP ID: rs139318454
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.21:44550766 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCACACGGGGCGGCAGAGGAGGGA[C/G]ACAGAGGAGGAGGGTCTGCAGCAGG
Phenotype: MIM: 612920
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: KRTAP10-2 PubMed Links

Gene Details

Gene: KRTAP10-2
Gene Name: keratin associated protein 10-2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198693.3		Intron			NP_941966.1

Gene: KRTAP10-3
Gene Name: keratin associated protein 10-3

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		Intron			NP_001258966.1
NM_144991.2		Intron			NP_659428.2

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