Product Details

SNP ID

rs201918052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30761667 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACTGAGCTGCGATCCTTCCCCG[C/T]TTCCCGCCGCAGCTCGGAGAGATGT

Phenotype

MIM: 172471 MIM: 607700

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC189 PubMed Links

Gene Details

Gene

CCDC189

Gene Name

coiled-coil domain containing 189

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014979.2	56	Missense Mutation	ACG,GCG	T28A	NP_001014979.2
NM_001195620.1	56	Missense Mutation	ACG,GCG	T28A	NP_001182549.1
XM_011545976.1	56	Missense Mutation	ACG,GCG	T28A	XP_011544278.1
XM_011545978.1	56	Missense Mutation	ACG,GCG	T28A	XP_011544280.1
XM_017023852.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879341.1
XM_017023853.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879342.1
XM_017023854.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879343.1
XM_017023855.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879344.1
XM_017023856.1	56	UTR 5			XP_016879345.1
XM_017023857.1	56	UTR 5			XP_016879346.1
XM_017023858.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879347.1
XM_017023859.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879348.1
XM_017023860.1	56	Intron			XP_016879349.1
XM_017023861.1	56	Missense Mutation	ACG,GCG	T28A	XP_016879350.1
XM_017023862.1	56	UTR 5			XP_016879351.1

Gene

PHKG2

Gene Name

phosphorylase kinase catalytic subunit gamma 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000294.2	56	Intron			NP_000285.1
NM_001172432.1	56	Intron			NP_001165903.1

Gene

RNF40

Gene Name

ring finger protein 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207033.1	56	UTR 5			NP_001193962.1
NM_001207034.1	56	UTR 5			NP_001193963.1
NM_001286572.2	56	Intron			NP_001273501.1
NM_014771.3	56	UTR 5			NP_055586.1
XM_011545997.1	56	Intron			XP_011544299.1

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