Product Details

SNP ID

rs141228666

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43197460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGTGTTTTCAGGCCACACTGAAC[A/G]GAATCTGAAATAAAGGAAAAGGCAG

Phenotype

MIM: 607089 MIM: 177070

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCNDBP1 PubMed Links

Gene Details

Gene

CCNDBP1

Gene Name

cyclin D1 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012142.4	1950	Intron			NP_036274.3
XM_006720448.1	1950	Intron			XP_006720511.1

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	1950	Missense Mutation	CGT,TGT	R670C	NP_000110.2
NM_001114134.1	1950	Missense Mutation	CGT,TGT	R640C	NP_001107606.1
XM_005254225.1	1950	Missense Mutation	CGT,TGT	R605C	XP_005254282.1
XM_011521349.2	1950	Missense Mutation	CGT,TGT	R670C	XP_011519651.1
XM_011521350.2	1950	Missense Mutation	CGT,TGT	R670C	XP_011519652.1
XM_011521351.2	1950	Missense Mutation	CGT,TGT	R670C	XP_011519653.1
XM_011521352.2	1950	Missense Mutation	CGT,TGT	R658C	XP_011519654.1
XM_011521353.2	1950	Missense Mutation	CGT,TGT	R635C	XP_011519655.1
XM_011521354.2	1950	Missense Mutation	CGT,TGT	R485C	XP_011519656.1

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