Product Details

SNP ID

rs147717001

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:151540403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGAACTGGTGTACCCTGGTGGAC[C/G]TGCACCCAGAGGACCAGGCGGCGGT

Phenotype

MIM: 609473 MIM: 600087

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CGN PubMed Links

Gene Details

Gene

CGN

Gene Name

cingulin

There are no transcripts associated with this gene.

Gene

MIR554

Gene Name

microRNA 554

There are no transcripts associated with this gene.

Gene

TUFT1

Gene Name

tuftelin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126337.1	110	Missense Mutation	CTG,GTG	L13V	NP_001119809.1
NM_001301317.1	110	UTR 5			NP_001288246.1
NM_020127.2	110	Missense Mutation	CTG,GTG	L13V	NP_064512.1
XM_011509961.2	110	Missense Mutation	CTG,GTG	L13V	XP_011508263.1
XM_017002223.1	110	Intron			XP_016857712.1
XM_017002224.1	110	Intron			XP_016857713.1

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