Product Details

SNP ID

rs6504236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:64499549 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAAAAAAACCAAACAAAAACAA[A/G]AAAAAAACCAGACCATCTTAAGCAA

Phenotype

MIM: 180630 MIM: 604983

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP95 PubMed Links

Gene Details

Gene

CEP95

Gene Name

centrosomal protein 95

There are no transcripts associated with this gene.

Gene

DDX5

Gene Name

DEAD-box helicase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320595.1	2621	UTR 3			NP_001307524.1
NM_001320596.1	2621	UTR 3			NP_001307525.1
NM_001320597.1	2621	UTR 3			NP_001307526.1
NM_004396.4	2621	UTR 3			NP_004387.1

Gene

MIR3064

Gene Name

microRNA 3064

There are no transcripts associated with this gene.

Gene

MIR5047

Gene Name

microRNA 5047

There are no transcripts associated with this gene.

Gene

POLG2

Gene Name

DNA polymerase gamma 2, accessory subunit

There are no transcripts associated with this gene.

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