Product Details

SNP ID

rs199582362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41316666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAAGCCACTGGTGTTCCTGGAGC[A/G]CTTCCGCACAGGCCTCCGTGAGGAG

Phenotype

MIM: 605800

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC97 PubMed Links

Gene Details

Gene

CCDC97

Gene Name

coiled-coil domain containing 97

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052848.1	451	Missense Mutation	CAC,CGC	H110R	NP_443080.1
XM_005259377.4	451	Missense Mutation	CAC,CGC	H45R	XP_005259434.1
XM_017027442.1	451	Missense Mutation	CAC,CGC	H164R	XP_016882931.1

Gene

HNRNPUL1

Gene Name

heterogeneous nuclear ribonucleoprotein U like 1

There are no transcripts associated with this gene.

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