Product Details

SNP ID

rs10138534

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:64921271 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTAGAAAAAAATGTAAGAAACTTT[G/T]TGCAACCCTGGGGTAGGCAGAGATG

Phenotype

MIM: 608577

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CHURC1 PubMed Links

Gene Details

Gene

CHURC1

Gene Name

churchill domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204063.1		Intron			NP_001190992.1
NM_001204064.1		Intron			NP_001190993.1
NM_145165.3		Intron			NP_660148.3

Gene

CHURC1-FNTB

Gene Name

CHURC1-FNTB readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202558.1		Intron			NP_001189487.1
NM_001202559.1		Intron			NP_001189488.1

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