Product Details

SNP ID

rs200405157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154413528 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTTCACCAAGGAGCTACACTCC[C/T]ACTTCTTCAGCTTGGGCAAGTGTGT

Phenotype

MIM: 300081 MIM: 300394

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNASE1L1 PubMed Links

Gene Details

Gene

DNASE1L1

Gene Name

deoxyribonuclease I-like 1

There are no transcripts associated with this gene.

Gene

TAZ

Gene Name

tafazzin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000116.4	186	Missense Mutation	CAC,TAC	H111Y	NP_000107.1
NM_001303465.1	186	Missense Mutation	CAC,TAC	H129Y	NP_001290394.1
NM_181311.3	186	Missense Mutation	CAC,TAC	H111Y	NP_851828.1
NM_181312.3	186	Missense Mutation	CAC,TAC	H111Y	NP_851829.1
NM_181313.3	186	Missense Mutation	CAC,TAC	H111Y	NP_851830.1
XM_006724836.1	186	Missense Mutation	CAC,TAC	H129Y	XP_006724899.1
XM_006724837.1	186	Missense Mutation	CAC,TAC	H129Y	XP_006724900.1
XM_006724839.1	186	Missense Mutation	CAC,TAC	H129Y	XP_006724902.1
XM_006724841.3	186	Missense Mutation	CAC,TAC	H42Y	XP_006724904.1
XM_006724842.3	186	Missense Mutation	CAC,TAC	H42Y	XP_006724905.1
XM_011531189.1	186	Missense Mutation	CAC,TAC	H129Y	XP_011529491.1
XM_011531191.2	186	Missense Mutation	CAC,TAC	H19Y	XP_011529493.1
XM_017029761.1	186	Missense Mutation	CAC,TAC	H111Y	XP_016885250.1
XM_017029762.1	186	Missense Mutation	CAC,TAC	H129Y	XP_016885251.1
XM_017029763.1	186	Missense Mutation	CAC,TAC	H111Y	XP_016885252.1
XM_017029764.1	186	Missense Mutation	CAC,TAC	H18Y	XP_016885253.1
XM_017029765.1	186	Missense Mutation	CAC,TAC	H42Y	XP_016885254.1

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