Product Details

SNP ID

rs13053375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30356953 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACTGGCGCACTTCCGGGACCGTCCC[A/C]TCGCCGTGACGCGCTTCCCGCCCCT

Phenotype

MIM: 605595

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC157 PubMed Links

Gene Details

Gene

CCDC157

Gene Name

coiled-coil domain containing 157

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017437.3	319	UTR 5			NP_001017437.2
NM_001318334.1	319	UTR 5			NP_001305263.1
NM_001318335.1	319	UTR 5			NP_001305264.1
XM_006724278.3	319	Intron			XP_006724341.1
XM_006724279.3	319	Intron			XP_006724342.1
XM_006724280.3	319	Intron			XP_006724343.1
XM_011530263.2	319	Intron			XP_011528565.1
XM_011530266.2	319	Intron			XP_011528568.1
XM_011530267.2	319	Intron			XP_011528569.1
XM_011530268.2	319	Intron			XP_011528570.1
XM_011530269.2	319	Intron			XP_011528571.1
XM_011530270.2	319	Intron			XP_011528572.1

Gene

SF3A1

Gene Name

splicing factor 3a subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005877.5	319	Intron			NP_005868.1

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