Product Details

SNP ID

rs149509552

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49075271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATCATAGGCCCCACCTTGCCCA[C/T]GCGAGCCAGCCTGCAGGCAGCACTG

Phenotype

MIM: 300947 MIM: 300840 MIM: 300526

Polymorphism

C/T, Transition 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

There are no transcripts associated with this gene.

Gene

WDR45

Gene Name

WD repeat domain 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029896.1	1280	Missense Mutation	ATG,GTG	M280V	NP_001025067.1
NM_007075.3	1280	Missense Mutation	ATG,GTG	M281V	NP_009006.2

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