Product Details

SNP ID

rs147099303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41937291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTTTTTGACCAAGGCCTGTCGG[G/T]CACGGGGCAGAGAGAGCCGGTGCAG

Phenotype

MIM: 603871 MIM: 123834

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BYSL PubMed Links

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	501	Missense Mutation	GAC,GCC	D92A	NP_001129489.1
NM_001136125.2	501	Missense Mutation	GAC,GCC	D101A	NP_001129597.1
NM_001136126.2	501	UTR 5			NP_001129598.1
NM_001287427.1	501	Missense Mutation	GAC,GCC	D123A	NP_001274356.1
NM_001287434.1	501	UTR 5			NP_001274363.1
NM_001760.4	501	Missense Mutation	GAC,GCC	D173A	NP_001751.1
XM_011514971.1	501	Missense Mutation	GAC,GCC	D173A	XP_011513273.1
XM_011514972.1	501	Missense Mutation	GAC,GCC	D92A	XP_011513274.1

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