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GCCCTGGAGTGGCCGCTCGGGGCTT[A/G]CCCGGTCCCCAGCGCCTGGGCTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614040 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SSPO PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SSPO - SCO-spondin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_198455.2 | 196 | Missense Mutation | ACC,GCC | T,A 66 | NP_940857.2 |
ZNF467 - zinc finger protein 467 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_005249959.4 | 196 | Intron | XP_005250016.1 | |||
XM_005249960.4 | 196 | Intron | XP_005250017.1 | |||
XM_005249961.4 | 196 | Intron | XP_005250018.1 | |||
XM_006715864.3 | 196 | Intron | XP_006715927.1 | |||
XM_011515855.2 | 196 | Intron | XP_011514157.1 | |||
XM_011515856.2 | 196 | Intron | XP_011514158.1 | |||
XM_011515857.2 | 196 | Intron | XP_011514159.1 | |||
XM_011515858.1 | 196 | Intron | XP_011514160.1 | |||
XM_017011799.1 | 196 | Intron | XP_016867288.1 |