Product Details

SNP ID

rs146808727

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44612860 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCCTTCCTCTGCCGCCCCGCG[A/T]GCTCCCGCCTGGCCTGCTGAGGCCT

Phenotype

MIM: 612920

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KRTAP10-8 PubMed Links

Gene Details

Gene

KRTAP10-8

Gene Name

keratin associated protein 10-8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198695.2	782	Missense Mutation	AGC,TGC	S254C	NP_941968.2

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	782	Intron			NP_001258966.1
NM_144991.2	782	Intron			NP_659428.2

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