Product Details

SNP ID

rs150521087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:4192231 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTGAGAGCACCTGGATTCTTCCC[A/G]AGCCCGAGGCTACCCAGGAGGCCCG

Phenotype

MIM: 604992

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SRL PubMed Links

Gene Details

Gene

SRL

Gene Name

sarcalumenin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098814.1	1403	Silent Mutation	CTC,CTT	L448L	NP_001092284.1
NM_001323667.1	1403	Silent Mutation	CTC,CTT	L406L	NP_001310596.1
NM_001323668.1	1403	Silent Mutation	CTC,CTT	L406L	NP_001310597.1
XM_017023527.1	1403	Silent Mutation	CTC,CTT	L832L	XP_016879016.1
XM_017023528.1	1403	Silent Mutation	CTC,CTT	L406L	XP_016879017.1
XM_017023529.1	1403	Silent Mutation	CTC,CTT	L406L	XP_016879018.1

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