Product Details

SNP ID

rs186746930

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:152155280 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCTGATTGTTCAACATAAGAGG[A/C]TTTTCTTGTTCCTTCAGTCCCTTGG

Phenotype

MIM: 613259

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RPTN PubMed Links

Gene Details

Gene

RPTN

Gene Name

repetin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122965.1	1884	Missense Mutation			NP_001116437.1

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