Product Details

SNP ID

rs149291683

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57757842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTCGTCTGGTTTGATCACAAGA[C/T]GGGCAAGGTAATGTCACCACATTGT

Phenotype

MIM: 602701

Polymorphism

C/T, Transition 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	1417	Missense Mutation	ACG,ATG	T64M	NP_001291349.1
NM_001304421.2	1417	Missense Mutation	ACG,ATG	T64M	NP_001291350.1
NM_001304422.2	1417	Intron			NP_001291351.1
NM_001304423.2	1417	Intron			NP_001291352.1
NM_001311178.1	1417	Intron			NP_001298107.1
NM_001311179.1	1417	Intron			NP_001298108.1
NM_007159.4	1417	Missense Mutation	ACG,ATG	T64M	NP_009090.2
XM_005265456.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265513.1
XM_005265457.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265514.1
XM_005265458.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265515.1
XM_005265459.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265516.1
XM_005265460.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265517.1
XM_005265461.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265518.1
XM_005265462.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265519.1
XM_005265464.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265521.1
XM_005265465.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265522.1
XM_005265466.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265523.1
XM_005265467.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265524.1
XM_005265468.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265525.1
XM_005265470.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265527.1
XM_005265471.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265528.1
XM_005265472.3	1417	Missense Mutation	ACG,ATG	T64M	XP_005265529.1
XM_006713326.2	1417	Missense Mutation	ACG,ATG	T64M	XP_006713389.1
XM_011534103.1	1417	Missense Mutation	ACG,ATG	T64M	XP_011532405.1
XM_011534104.1	1417	Missense Mutation	ACG,ATG	T64M	XP_011532406.1
XM_011534105.1	1417	Missense Mutation	ACG,ATG	T64M	XP_011532407.1
XM_011534106.1	1417	Intron			XP_011532408.1
XM_017007146.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862635.1
XM_017007147.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862636.1
XM_017007148.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862637.1
XM_017007149.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862638.1
XM_017007150.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862639.1
XM_017007151.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862640.1
XM_017007152.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862641.1
XM_017007153.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862642.1
XM_017007154.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862643.1
XM_017007155.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862644.1
XM_017007156.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862645.1
XM_017007157.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862646.1
XM_017007158.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862647.1
XM_017007159.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862648.1
XM_017007160.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862649.1
XM_017007161.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862650.1
XM_017007162.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862651.1
XM_017007163.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862652.1
XM_017007164.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862653.1
XM_017007165.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862654.1
XM_017007166.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862655.1
XM_017007167.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862656.1
XM_017007168.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862657.1
XM_017007169.1	1417	Missense Mutation	ACG,ATG	T64M	XP_016862658.1
XM_017007170.1	1417	Intron			XP_016862659.1

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