Product Details

SNP ID

rs200768488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185397276 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTGCTTTCTTCTCTGGCAGCTG[C/T]AAACGGGCGCTGACCTCAACCAGCA

Phenotype

MIM: 611482

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKRD37 PubMed Links

Gene Details

Gene

ANKRD37

Gene Name

ankyrin repeat domain 37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181726.3	237	Nonsense Mutation	CAA,TAA	Q52*	NP_859077.1
XM_017008176.1	237	Nonsense Mutation	CAA,TAA	Q52*	XP_016863665.1

Gene

C4orf47

Gene Name

chromosome 4 open reading frame 47

There are no transcripts associated with this gene.

Gene

LRP2BP

Gene Name

LRP2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018409.3	237	Intron			NP_060879.2
XM_005263125.4	237	Intron			XP_005263182.1
XM_006714260.3	237	Intron			XP_006714323.1
XM_006714265.3	237	Intron			XP_006714328.1
XM_011532110.2	237	Intron			XP_011530412.1
XM_011532111.2	237	Intron			XP_011530413.1
XM_017008410.1	237	Intron			XP_016863899.1
XM_017008411.1	237	Intron			XP_016863900.1

Gene

UFSP2

Gene Name

UFM1 specific peptidase 2

There are no transcripts associated with this gene.

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