Product Details

SNP ID

rs80067811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43201951 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCTGACTGAGGCTGTGAGGGG[G/T]TGATACTGCTCTGCTTTCTCTGGCA

Phenotype

MIM: 607089 MIM: 177070

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCNDBP1 PubMed Links

Gene Details

Gene

CCNDBP1

Gene Name

cyclin D1 binding protein 1

There are no transcripts associated with this gene.

Gene

EPB42

Gene Name

erythrocyte membrane protein band 4.2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000119.2	1838	Missense Mutation	CAA,CAC	Q632H	NP_000110.2
NM_001114134.1	1838	Missense Mutation	CAA,CAC	Q602H	NP_001107606.1
XM_005254225.1	1838	Missense Mutation	CAA,CAC	Q567H	XP_005254282.1
XM_011521349.2	1838	Missense Mutation	CAA,CAC	Q632H	XP_011519651.1
XM_011521350.2	1838	Missense Mutation	CAA,CAC	Q632H	XP_011519652.1
XM_011521351.2	1838	Missense Mutation	CAA,CAC	Q632H	XP_011519653.1
XM_011521352.2	1838	Missense Mutation	CAA,CAC	Q620H	XP_011519654.1
XM_011521353.2	1838	Missense Mutation	CAA,CAC	Q597H	XP_011519655.1
XM_011521354.2	1838	Missense Mutation	CAA,CAC	Q447H	XP_011519656.1

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