Product Details

SNP ID

rs149419129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43197334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAGTTCAGGGGCTACCACGGTGA[C/T]GCTTTTATAGTTGGTTAGGTTCTGG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012142.4	2076	Intron			NP_036274.3
XM_006720448.1	2076	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	2076	Missense Mutation	ATC,GTC	I712V	NP_000110.2
NM_001114134.1	2076	Missense Mutation	ATC,GTC	I682V	NP_001107606.1
XM_005254225.1	2076	Missense Mutation	ATC,GTC	I647V	XP_005254282.1
XM_011521349.2	2076	Missense Mutation	ATC,GTC	I712V	XP_011519651.1
XM_011521350.2	2076	Missense Mutation	ATC,GTC	I712V	XP_011519652.1
XM_011521351.2	2076	Missense Mutation	ATC,GTC	I712V	XP_011519653.1
XM_011521352.2	2076	Missense Mutation	ATC,GTC	I700V	XP_011519654.1
XM_011521353.2	2076	Missense Mutation	ATC,GTC	I677V	XP_011519655.1
XM_011521354.2	2076	Missense Mutation	ATC,GTC	I527V	XP_011519656.1

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