Product Details

SNP ID

rs1331841

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:132378463 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCTTTCACCCTGACTGACTTTTG[A/C]TAGATTGCATCTTACTTGTTATTCA

Phenotype

MIM: 300413

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MBNL3 PubMed Links

Gene Details

Gene

MBNL3

Gene Name

muscleblind like splicing regulator 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170701.1	10553	UTR 3			NP_001164172.1
NM_001170702.1	10553	UTR 3			NP_001164173.1
NM_001170703.1	10553	UTR 3			NP_001164174.1
NM_001170704.1	10553	UTR 3			NP_001164175.1
NM_018388.3	10553	UTR 3			NP_060858.2
NM_133486.2	10553	UTR 3			NP_597846.1
XM_005262431.3	10553	UTR 3			XP_005262488.1
XM_005262434.3	10553	UTR 3			XP_005262491.1
XM_005262436.3	10553	UTR 3			XP_005262493.1
XM_005262437.3	10553	UTR 3			XP_005262494.1
XM_005262438.3	10553	UTR 3			XP_005262495.1
XM_005262439.3	10553	UTR 3			XP_005262496.1
XM_005262440.3	10553	UTR 3			XP_005262497.1
XM_005262441.3	10553	UTR 3			XP_005262498.1
XM_005262442.3	10553	UTR 3			XP_005262499.1
XM_011531364.2	10553	UTR 3			XP_011529666.1
XM_017029632.1	10553	UTR 3			XP_016885121.1
XM_017029633.1	10553	UTR 3			XP_016885122.1
XM_017029634.1	10553	UTR 3			XP_016885123.1
XM_017029635.1	10553	UTR 3			XP_016885124.1
XM_017029636.1	10553	UTR 3			XP_016885125.1
XM_017029637.1	10553	UTR 3			XP_016885126.1
XM_017029638.1	10553	UTR 3			XP_016885127.1
XM_017029639.1	10553	Intron			XP_016885128.1

Gene

RAP2C-AS1

Gene Name

RAP2C antisense RNA 1

There are no transcripts associated with this gene.

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