Product Details

SNP ID

rs142786475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:64963623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCATTGACAGCGAGAGACACACTA[C/G]TGCTCCTCCTGGCTGATGCCAAGGC

Phenotype

MIM: 608181

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ANKDD1A PubMed Links

Gene Details

Gene

ANKDD1A

Gene Name

ankyrin repeat and death domain containing 1A

There are no transcripts associated with this gene.

Gene

SPG21

Gene Name

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127889.4	1149	Silent Mutation	CAC,CAG	H308Q	NP_001121361.1
NM_001127890.4	1149	Silent Mutation	CAC,CAG	H281Q	NP_001121362.1
NM_016630.6	1149	Silent Mutation	CAC,CAG	H308Q	NP_057714.1
XM_005254437.4	1149	Missense Mutation	CAC,CAG	H308Q	XP_005254494.1
XM_017022297.1	1149	Missense Mutation	CAC,CAG	H308Q	XP_016877786.1
XM_017022298.1	1149	Missense Mutation	CAC,CAG	H308Q	XP_016877787.1

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