Product Details

SNP ID

rs143988077

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47847708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGCCCCCATCGGGCCCACATGGA[A/G]CCCCCAGTCGCTCCGCCTCCAGACA

Phenotype

MIM: 614966 MIM: 608613

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC46 PubMed Links

Gene Details

Gene

LRRC46

Gene Name

leucine rich repeat containing 46

There are no transcripts associated with this gene.

Gene

SCRN2

Gene Name

secernin 2

There are no transcripts associated with this gene.

Gene

SP6

Gene Name

Sp6 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258248.1	963	Missense Mutation	GCT,GTT	A241V	NP_001245177.1
NM_199262.2	963	Missense Mutation	GCT,GTT	A241V	NP_954871.1
XM_006722115.3	963	Missense Mutation	GCT,GTT	A241V	XP_006722178.1

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