Product Details

SNP ID

rs142757005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:122998039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCAGAACCTGGACATGTTCAAA[A/C]GCTTTAAGGCCACCGACCCTGGCAT

Phenotype

MIM: 616945

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CLVS2 PubMed Links

Gene Details

Gene

CLVS2

Gene Name

clavesin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010852.3	3299	Missense Mutation	AGC,CGC	S88R	NP_001010852.2
XM_017010266.1	3299	Missense Mutation	AGC,CGC	S88R	XP_016865755.1

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