Product Details

SNP ID

rs201234411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31161686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGCTGCCCTCCCAGGGGGCTCCA[C/T]AGCGGCCTCTCAGCACCTTCTCCCC

Phenotype

MIM: 605310 MIM: 164177 MIM: 600912

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCHCR1 PubMed Links

Gene Details

Gene

CCHCR1

Gene Name

coiled-coil alpha-helical rod protein 1

There are no transcripts associated with this gene.

Gene

POU5F1

Gene Name

POU class 5 homeobox 1

There are no transcripts associated with this gene.

Gene

TCF19

Gene Name

transcription factor 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077511.1	1002	Nonsense Mutation	CAG,TAG	Q160*	NP_001070979.1
NM_001318908.1	1002	Nonsense Mutation	CAG,TAG	Q160*	NP_001305837.1
NM_007109.2	1002	Nonsense Mutation	CAG,TAG	Q160*	NP_009040.2

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