Product Details

SNP ID

rs141842194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30759081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGGGGTAACTGCCTGCTCCTCCA[A/T]CTCCTTGCTTTCTTCTTTCTCTGCA

Phenotype

MIM: 172471 MIM: 607700

Polymorphism

A/T, 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	1409	Missense Mutation	ATG,TTG	M250L	NP_001014979.2
NM_001195620.1	1409	Intron			NP_001182549.1
XM_011545976.1	1409	Intron			XP_011544278.1
XM_011545978.1	1409	Intron			XP_011544280.1
XM_017023852.1	1409	Missense Mutation	ATG,TTG	M315L	XP_016879341.1
XM_017023853.1	1409	Missense Mutation	ATG,TTG	M294L	XP_016879342.1
XM_017023854.1	1409	Intron			XP_016879343.1
XM_017023855.1	1409	Missense Mutation	ATG,TTG	M283L	XP_016879344.1
XM_017023856.1	1409	Missense Mutation	ATG,TTG	M278L	XP_016879345.1
XM_017023857.1	1409	Intron			XP_016879346.1
XM_017023858.1	1409	Intron			XP_016879347.1
XM_017023859.1	1409	Intron			XP_016879348.1
XM_017023860.1	1409	Missense Mutation	ATG,TTG	M176L	XP_016879349.1
XM_017023861.1	1409	Intron			XP_016879350.1
XM_017023862.1	1409	Missense Mutation	ATG,TTG	M144L	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	1409	UTR 3			NP_000285.1
NM_001172432.1	1409	Intron			NP_001165903.1

Gene

RNF40

Gene Name

ring finger protein 40

There are no transcripts associated with this gene.

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