Product Details

SNP ID

rs78030705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:222303976 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCCACCGTGGGATCACGGGAACC[A/G]GAGGCAAGAGGCTGCGAATGAGTCC

Phenotype

MIM: 606597

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC140 PubMed Links

Gene Details

Gene

CCDC140

Gene Name

coiled-coil domain containing 140

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153038.1	458	Missense Mutation	CAG,CGG	Q25R	NP_694583.1
XM_017003466.1	458	Missense Mutation	CAG,CGG	Q25R	XP_016858955.1

Gene

PAX3

Gene Name

paired box 3

There are no transcripts associated with this gene.

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