Product Details

SNP ID

rs138644866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:100650853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGAGGTCCCACAGGCTCCTGCC[C/G]TGGACTACCGAGGTAATCTACCCTG

Phenotype

MIM: 300642

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SRPX2 PubMed Links

Gene Details

Gene

SRPX2

Gene Name

sushi repeat containing protein, X-linked 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014467.2	631	Missense Mutation	CTG,GTG	L51V	NP_055282.1

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