Product Details

SNP ID

rs202034960

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:76313241 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTGATTTCTGATCATTGAAG[A/T]CATTGCTGAAAATGTTGATAAAACA

Phenotype

MIM: 607406

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC158 PubMed Links

Gene Details

Gene

CCDC158

Gene Name

coiled-coil domain containing 158

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042784.1	3424	Missense Mutation	ACT,TCT	T1091S	NP_001036249.1
XM_005262974.4	3424	Missense Mutation	ACT,TCT	T1091S	XP_005263031.1
XM_006714204.3	3424	Missense Mutation	ACT,TCT	T1095S	XP_006714267.1
XM_011531908.2	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530210.1
XM_011531909.2	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530211.1
XM_011531910.2	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530212.1
XM_011531911.1	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530213.1
XM_011531912.2	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530214.1
XM_011531913.1	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530215.1
XM_011531914.2	3424	Missense Mutation	ACT,TCT	T1095S	XP_011530216.1
XM_011531915.2	3424	Missense Mutation	ACT,TCT	T1044S	XP_011530217.1
XM_011531916.2	3424	Missense Mutation	ACT,TCT	T1013S	XP_011530218.1
XM_011531917.1	3424	Missense Mutation	ACT,TCT	T1013S	XP_011530219.1
XM_017008160.1	3424	Missense Mutation	ACT,TCT	T1095S	XP_016863649.1
XM_017008161.1	3424	Missense Mutation	ACT,TCT	T795S	XP_016863650.1

Gene

FAM47E-STBD1

Gene Name

FAM47E-STBD1 readthrough

There are no transcripts associated with this gene.

Gene

STBD1

Gene Name

starch binding domain 1

There are no transcripts associated with this gene.

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