Product Details

SNP ID

rs61743626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48432676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGTCTTTTCTAGGCCATCAAGC[C/T]GCTCTCGTAAGCCTTCTAGACATGA

Phenotype

MIM: 601053 MIM: 615808

Polymorphism

C/T, 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	1435	Missense Mutation	CAG,CGG	Q323R	NP_001243893.1
NM_001256965.2	1435	Missense Mutation	CAG,CGG	Q214R	NP_001243894.1
NM_001256966.2	1435	Missense Mutation	CAG,CGG	Q214R	NP_001243895.1
NM_001256967.2	1435	Missense Mutation	CAG,CGG	Q214R	NP_001243896.1
NM_001256968.2	1435	Missense Mutation	CAG,CGG	Q214R	NP_001243897.1
NM_001256969.2	1435	Missense Mutation	CAG,CGG	Q214R	NP_001243898.1
NM_024661.4	1435	Missense Mutation	CAG,CGG	Q323R	NP_078937.3
XM_011534113.2	1435	Missense Mutation	CAG,CGG	Q343R	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.

View Full Product Details