Product Details

SNP ID

rs199514353

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48433826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGTGAACTTCCAAGTCCTCCC[A/G]AGCCTCTCGGACAAGCCCTCGAGCC

Phenotype

MIM: 601053 MIM: 615808

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC51 PubMed Links

Gene Details

Gene

CCDC51

Gene Name

coiled-coil domain containing 51

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256964.1	825	Missense Mutation	CGG,TGG	R120W	NP_001243893.1
NM_001256965.2	825	Missense Mutation	CGG,TGG	R11W	NP_001243894.1
NM_001256966.2	825	Missense Mutation	CGG,TGG	R11W	NP_001243895.1
NM_001256967.2	825	Missense Mutation	CGG,TGG	R11W	NP_001243896.1
NM_001256968.2	825	Missense Mutation	CGG,TGG	R11W	NP_001243897.1
NM_001256969.2	825	Missense Mutation	CGG,TGG	R11W	NP_001243898.1
NM_024661.4	825	Missense Mutation	CGG,TGG	R120W	NP_078937.3
XM_011534113.2	825	Missense Mutation	CGG,TGG	R140W	XP_011532415.1

Gene

PLXNB1

Gene Name

plexin B1

There are no transcripts associated with this gene.

Gene

TMA7

Gene Name

translation machinery associated 7 homolog

There are no transcripts associated with this gene.

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