Product Details

SNP ID

rs147367477

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30762620 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCGGAAAAGAAGCTGAGTCGTGA[C/G]GAGAAGACCACCACGACTCTTATCG

Phenotype

MIM: 172471 MIM: 607700

Polymorphism

C/G, Transversion 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	236	Intron			NP_001014979.2
NM_001195620.1	236	Intron			NP_001182549.1
XM_011545976.1	236	Intron			XP_011544278.1
XM_011545978.1	236	Intron			XP_011544280.1
XM_017023852.1	236	Intron			XP_016879341.1
XM_017023853.1	236	Intron			XP_016879342.1
XM_017023854.1	236	Intron			XP_016879343.1
XM_017023855.1	236	Intron			XP_016879344.1
XM_017023856.1	236	Intron			XP_016879345.1
XM_017023857.1	236	Intron			XP_016879346.1
XM_017023858.1	236	Intron			XP_016879347.1
XM_017023859.1	236	Intron			XP_016879348.1
XM_017023860.1	236	Intron			XP_016879349.1
XM_017023861.1	236	Intron			XP_016879350.1
XM_017023862.1	236	Intron			XP_016879351.1

Gene

PHKG2

Gene Name

phosphorylase kinase catalytic subunit gamma 2

There are no transcripts associated with this gene.

Gene

RNF40

Gene Name

ring finger protein 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207033.1	236	Missense Mutation	GAC,GAG	D25E	NP_001193962.1
NM_001207034.1	236	Missense Mutation	GAC,GAG	D25E	NP_001193963.1
NM_001286572.2	236	Missense Mutation	GAC,GAG	D25E	NP_001273501.1
NM_014771.3	236	Missense Mutation	GAC,GAG	D25E	NP_055586.1
XM_011545997.1	236	Missense Mutation	GAC,GAG	D25E	XP_011544299.1

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