Product Details

SNP ID

rs200071585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44681945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGCCGCATACACGACGGGCCTG[A/C]AGCTCACGGGCACGCACACAGAGGA

Phenotype

MIM: 612920

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KRTAP12-1 PubMed Links

Gene Details

Gene

KRTAP12-1

Gene Name

keratin associated protein 12-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181686.1	219	Missense Mutation	TGC,TTC	C60F	NP_859014.1

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	219	Intron			NP_001258966.1
NM_144991.2	219	Intron			NP_659428.2

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