Product Details

SNP ID

rs1051130

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.6:41936044 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GGCGCTGGGCTGGAGCTGGTCTGAG[A/C]GGCTTCCCTGAGGCTCTCCCTGAGT

Phenotype

MIM: 603871 MIM: 123834

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

BYSL PubMed Links

Additional Information

For this assay, SNP(s) [rs3218102] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

BYSL

Gene Name

bystin like

There are no transcripts associated with this gene.

Gene

CCND3

Gene Name

cyclin D3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136017.3	758	Missense Mutation	ACT,CCT	T178P	NP_001129489.1
NM_001136125.2	758	Missense Mutation	ACT,CCT	T187P	NP_001129597.1
NM_001136126.2	758	Missense Mutation	ACT,CCT	T63P	NP_001129598.1
NM_001287427.1	758	Missense Mutation	ACT,CCT	T209P	NP_001274356.1
NM_001287434.1	758	Missense Mutation	ACT,CCT	T63P	NP_001274363.1
NM_001760.4	758	Missense Mutation	ACT,CCT	T259P	NP_001751.1
XM_011514971.1	758	Missense Mutation	CAC,CCC	H213P	XP_011513273.1
XM_011514972.1	758	Missense Mutation	CAC,CCC	H132P	XP_011513274.1

View Full Product Details