Product Details

SNP ID

rs75424023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43203222 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGTGAGTCTAAGGAAGGTGTTCT[C/T]GGGTGGGTTTCGCTCAAAATTGGAG

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	1704	Missense Mutation	AAG,GAG	K588E	NP_000110.2
NM_001114134.1	1704	Missense Mutation	AAG,GAG	K558E	NP_001107606.1
XM_005254225.1	1704	Missense Mutation	AAG,GAG	K523E	XP_005254282.1
XM_011521349.2	1704	Missense Mutation	AAG,GAG	K588E	XP_011519651.1
XM_011521350.2	1704	Missense Mutation	AAG,GAG	K588E	XP_011519652.1
XM_011521351.2	1704	Missense Mutation	AAG,GAG	K588E	XP_011519653.1
XM_011521352.2	1704	Missense Mutation	AAG,GAG	K576E	XP_011519654.1
XM_011521353.2	1704	Missense Mutation	AAG,GAG	K553E	XP_011519655.1
XM_011521354.2	1704	Missense Mutation	AAG,GAG	K403E	XP_011519656.1

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