Product Details

SNP ID

rs199667138

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57757834 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAACCACGCTCTCGTCTGGTTTGA[G/T]CACAAGACGGGCAAGGTAATGTCAC

Phenotype

MIM: 602701

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SLMAP PubMed Links

Gene Details

Gene

SLMAP

Gene Name

sarcolemma associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304420.2	1409	Missense Mutation	GAG,GAT	E61D	NP_001291349.1
NM_001304421.2	1409	Missense Mutation	GAG,GAT	E61D	NP_001291350.1
NM_001304422.2	1409	Intron			NP_001291351.1
NM_001304423.2	1409	Intron			NP_001291352.1
NM_001311178.1	1409	Intron			NP_001298107.1
NM_001311179.1	1409	Intron			NP_001298108.1
NM_007159.4	1409	Missense Mutation	GAG,GAT	E61D	NP_009090.2
XM_005265456.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265513.1
XM_005265457.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265514.1
XM_005265458.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265515.1
XM_005265459.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265516.1
XM_005265460.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265517.1
XM_005265461.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265518.1
XM_005265462.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265519.1
XM_005265464.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265521.1
XM_005265465.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265522.1
XM_005265466.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265523.1
XM_005265467.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265524.1
XM_005265468.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265525.1
XM_005265470.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265527.1
XM_005265471.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265528.1
XM_005265472.3	1409	Missense Mutation	GAG,GAT	E61D	XP_005265529.1
XM_006713326.2	1409	Missense Mutation	GAG,GAT	E61D	XP_006713389.1
XM_011534103.1	1409	Missense Mutation	GAG,GAT	E61D	XP_011532405.1
XM_011534104.1	1409	Missense Mutation	GAG,GAT	E61D	XP_011532406.1
XM_011534105.1	1409	Missense Mutation	GAG,GAT	E61D	XP_011532407.1
XM_011534106.1	1409	Intron			XP_011532408.1
XM_017007146.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862635.1
XM_017007147.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862636.1
XM_017007148.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862637.1
XM_017007149.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862638.1
XM_017007150.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862639.1
XM_017007151.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862640.1
XM_017007152.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862641.1
XM_017007153.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862642.1
XM_017007154.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862643.1
XM_017007155.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862644.1
XM_017007156.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862645.1
XM_017007157.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862646.1
XM_017007158.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862647.1
XM_017007159.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862648.1
XM_017007160.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862649.1
XM_017007161.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862650.1
XM_017007162.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862651.1
XM_017007163.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862652.1
XM_017007164.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862653.1
XM_017007165.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862654.1
XM_017007166.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862655.1
XM_017007167.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862656.1
XM_017007168.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862657.1
XM_017007169.1	1409	Missense Mutation	GAG,GAT	E61D	XP_016862658.1
XM_017007170.1	1409	Intron			XP_016862659.1

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