Product Details

SNP ID

rs200925348

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11352132 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAAACGCAGGTGAAATGCCGCA[A/G]AGTGAGTGGAGGAGATGGGGACCCT

Phenotype

MIM: 613771

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC159 PubMed Links

Gene Details

Gene

CCDC159

Gene Name

coiled-coil domain containing 159

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080503.2	837	Missense Mutation	AAA,AGA	K189R	NP_001073972.2
XM_006722643.1	837	Missense Mutation	AAA,AGA	K225R	XP_006722706.1
XM_011527678.2	837	Missense Mutation	AAA,AGA	K188R	XP_011525980.2
XM_017026255.1	837	Missense Mutation	AAA,AGA	K225R	XP_016881744.1
XM_017026256.1	837	Missense Mutation	AAA,AGA	K223R	XP_016881745.1
XM_017026257.1	837	Missense Mutation	AAA,AGA	K198R	XP_016881746.1
XM_017026258.1	837	Missense Mutation	AAA,AGA	K189R	XP_016881747.1
XM_017026259.1	837	Missense Mutation	AAA,AGA	K188R	XP_016881748.1
XM_017026260.1	837	Missense Mutation	AAA,AGA	K188R	XP_016881749.1
XM_017026261.1	837	Missense Mutation	AAA,AGA	K166R	XP_016881750.1
XM_017026262.1	837	Missense Mutation	AAA,AGA	K166R	XP_016881751.1
XM_017026263.1	837	Missense Mutation	AAA,AGA	K166R	XP_016881752.1
XM_017026264.1	837	Missense Mutation	AAA,AGA	K166R	XP_016881753.1

Gene

PLPPR2

Gene Name

phospholipid phosphatase related 2

There are no transcripts associated with this gene.

Gene

TMEM205

Gene Name

transmembrane protein 205

There are no transcripts associated with this gene.

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