Product Details

SNP ID

rs199863706

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31161679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGCCTATGCTGCCCTCCCAGGG[A/G]GCTCCACAGCGGCCTCTCAGCACCT

Phenotype

MIM: 605310 MIM: 164177 MIM: 600912

Polymorphism

A/G, 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	995	Silent Mutation	GGA,GGG	G157G	NP_001070979.1
NM_001318908.1	995	Silent Mutation	GGA,GGG	G157G	NP_001305837.1
NM_007109.2	995	Silent Mutation	GGA,GGG	G157G	NP_009040.2

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