Product Details

SNP ID

rs149327023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:42529758 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTGGGAAATCTAAAAGACATGG[C/T]CCTGAACATAGGCAATGAGATTGAT

Phenotype

MIM: 602534

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRRC57 PubMed Links

Gene Details

Gene

LRRC57

Gene Name

leucine rich repeat containing 57

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153260.2	1010	Intron			NP_694992.2
XM_011521423.2	1010	Intron			XP_011519725.1
XM_011521424.2	1010	Intron			XP_011519726.1

Gene

SNAP23

Gene Name

synaptosome associated protein 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003825.3	1010	Missense Mutation	GCC,GTC	A170V	NP_003816.2
NM_130798.2	1010	Missense Mutation	GCC,GTC	A117V	NP_570710.1
XM_006720725.2	1010	Missense Mutation	GCC,GTC	A181V	XP_006720788.1
XM_017022692.1	1010	Missense Mutation	GCC,GTC	A181V	XP_016878181.1
XM_017022693.1	1010	Intron			XP_016878182.1
XM_017022694.1	1010	Intron			XP_016878183.1

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