Product Details

SNP ID

rs143345164

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49071961 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATGCTCTCGATCTTGTTCTCAA[G/T]CTTGTTCTTAAGGTTGCGCAGGCGC

Phenotype

MIM: 300947 MIM: 300840 MIM: 300526

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC120 PubMed Links

Gene Details

Gene

CCDC120

Gene Name

coiled-coil domain containing 120

There are no transcripts associated with this gene.

Gene

PRAF2

Gene Name

PRA1 domain family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007213.2	503	Missense Mutation	ATT,CTT	I149L	NP_009144.1

Gene

WDR45

Gene Name

WD repeat domain 45

There are no transcripts associated with this gene.

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