Product Details

SNP ID

rs149378331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63746904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTACATGGCTTTCACTTTGATTT[A/G]TTTCATTTTCATTTGCTTCTTTTCC

Phenotype

MIM: 608626

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC47 PubMed Links

Gene Details

Gene

CCDC47

Gene Name

coiled-coil domain containing 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020198.2	1633	Nonsense Mutation	CAA,TAA	Q477*	NP_064583.2
XM_005257527.2	1633	Nonsense Mutation	CAA,TAA	Q477*	XP_005257584.1

Gene

STRADA

Gene Name

STE20-related kinase adaptor alpha

There are no transcripts associated with this gene.

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