Product Details

SNP ID

rs200071559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44540144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGCAGACGGACATGGTGGACG[C/T]GGCCATGCTGGGGTGGGGAGGAGGT

Phenotype

MIM: 612920

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRTAP10-1 PubMed Links

Gene Details

Gene

KRTAP10-1

Gene Name

keratin associated protein 10-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198691.2	52	Missense Mutation	ACG,GCG	T3A	NP_941964.2

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	52	Intron			NP_001258966.1
NM_144991.2	52	Intron			NP_659428.2

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