Product Details

SNP ID

rs200820078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43201845 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGAAGCCTGCCATCACTTACC[C/T]GTAGCTCCTCTCTCTGTGAATGAGC

Phenotype

MIM: 607089 MIM: 177070

Polymorphism

C/T, Transition 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	1944	Missense Mutation	AGA,GGA	R668G	NP_000110.2
NM_001114134.1	1944	Missense Mutation	AGA,GGA	R638G	NP_001107606.1
XM_005254225.1	1944	Missense Mutation	AGA,GGA	R603G	XP_005254282.1
XM_011521349.2	1944	Missense Mutation	AGA,GGA	R668G	XP_011519651.1
XM_011521350.2	1944	Missense Mutation	AGA,GGA	R668G	XP_011519652.1
XM_011521351.2	1944	Missense Mutation	AGA,GGA	R668G	XP_011519653.1
XM_011521352.2	1944	Missense Mutation	AGA,GGA	R656G	XP_011519654.1
XM_011521353.2	1944	Missense Mutation	AGA,GGA	R633G	XP_011519655.1
XM_011521354.2	1944	Missense Mutation	AGA,GGA	R483G	XP_011519656.1

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