Product Details

SNP ID

rs138421420

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44612261 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCAGGAAAGCTGCTGCGAGCCCC[A/G]CTCCTGTGCCTCCAGCTGCTGTACC

Phenotype

MIM: 612920

Polymorphism

A/G, Transition 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	183	Missense Mutation	CAC,CGC	H54R	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	183	Intron			NP_001258966.1
NM_144991.2	183	Intron			NP_659428.2

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