Product Details

SNP ID

rs200983551

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:152154875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCATGGGTTTGTCTGTCTCGTC[C/T]CTGATGGTTCTGCTCATCTTTATGG

Phenotype

MIM: 613259

Polymorphism

C/T, Transition 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	2289	Missense Mutation	AGA,GGA	R742G	NP_001116437.1

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