Product Details

SNP ID: rs112534560
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:46019320 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGAGAGTGTACGCTGCACATCCCGG[C/T]GTCCTTTGAGCACATAGTTGGACCT
Phenotype: MIM: 604963
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CCDC61 PubMed Links

Gene Details

Gene: CCDC61
Gene Name: coiled-coil domain containing 61

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267723.1	786	Intron			NP_001254652.1
XM_005259191.3	786	Intron			XP_005259248.1
XM_005259192.4	786	Intron			XP_005259249.1
XM_011527257.2	786	Intron			XP_011525559.1

Gene: MIR769
Gene Name: microRNA 769

There are no transcripts associated with this gene.

Gene: PGLYRP1
Gene Name: peptidoglycan recognition protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005091.2	786	Missense Mutation	CAC,CGC	H170R	NP_005082.1

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